bluuebunny/crossref_metadata_2025_split huggingface dataset:
Retinitis pigmentosa and related disorders: Phenotypes of rhodopsin and peripherin/RDS mutations
Authors: Shastry Barkur S. 
Published: June 2005

AbstractRetinitis pigmentosa comprises a group of clinically variable and genetically heterogeneous inherited disorders of the retina. It is estimated that approximately 1.5 million people throughout the world are affected by this disease. It is a slowly progressive disorder and causes loss of night vision and peripheral visual field in adolescence. It can be inherited through an autosomal dominant, recessive, or X‐linked mode; the autosomal dominant form is considered to be the mildest form. Molecular genetic studies on the autosomal dominant disorder have shown that, in some families, genes encoding the rhodopsin and peripherin/RDS map very close to the disease loci identified previously by the systematic linkage analyses. These results, together with the observation that a recessive nonsense mutation in the Drosophila opsin gene causes photoreceptor degeneration, prompted an extensive search for the alterations in the human rhodopsin and peripherin/RDS genes in families with autosomal dominant retinitis pigmentosa. As a result, several distinct rhodopsin and peripherin/RDS mutations have been found in approximately 30% of all autosomal dominant cases. A wide variety of clinical expression of the disorder even within a family with the same mutation, its late onset, slow progression, and cone degeneration clearly suggest that some other factors or genes in addition to rhodopsin are responsible for the phenotypic expression of the disorder. In this article, an attempt is made to highlight some of these recent developments and to correlate the various mutations and the phenotypes. © 1994 Wiley‐Liss, Inc.
Autosomal dominant Muckle‐Wells syndrome associated with cystinuria, ichthyosis, and aphthosis in a four‐generation family
Authors: Berthelot J.‐M. , Maugars Y. , Robillard N. , Pascal O. , Stalder J.‐F. , David A. , Prost A. 
Published: June 2005

AbstractMuckle‐Wells syndrome is a rare autosomal dominant disorder characterized by chronic recurrent urticaria, periodic arthritis, sensorineural deafness, general signs of inflammation, and secondary amyloidosis (AA type). We report on a 4‐generation family with 7 persons sharing various signs of this syndrome associated with bipolar aphthosis in 5 cases and cystinuria in one. Two other relatives in the family had ichthyosis. © 1994 Wiley‐Liss, Inc.
Clinical and molecular studies in a large Dutch family with Noonan syndrome
Authors: Van Der Burgt Ineke , Berends Ed , Lommen Ed , Van Beersum Sylvia , Hamel Ben , Mariman Edwin 
Published: June 2005

AbstractWe describe the largest Noonan syndrome (NS) family reported to date. The manifestations of the affected relatives are discussed. In the absence of a biochemical marker NS is still a clinical diagnosis. The diagnostic criteria that were used are presented compared with other published criteria for diagnosing NS.The large size of this family enabled us to test the possible involvement of candidate regions by multipoint linkage analysis. Both the region surrounding the NF1 locus on chromosome 17 and the proximal part of chromosome 22 could be excluded. Since NS may well be heterogeneous, the use of such a large family in linkage studies of NS should prove indispensable. © 1994 Wiley‐Liss, Inc.
Sanfilippo syndrome type A in two adult sibs
Authors: Lindor Noralane M. , Hoffman Alan , O'Brien John F. , Hanson Norman P. , Thompson Jerry N. 
Published: June 2005

AbstractWe report on 2 adult sibs with Sanfilippo syndrome type A (MPS IIIA; deficiency of heparin sulfamidase) who were less functionally impaired than other reported individuals with this disorder. These individuals expand our understanding of the range of clinical expression that one may see in Sanfilippo syndrome type A. © 1994 Wiley‐Liss, Inc.
Neurofibromatosis type I (NFI) in Israeli families: Linkage analysis as a diagnostic tool
Authors: Elyakim Segal , Lerer Israela , Zlotogora Joel , Sagi Michal , Gelman‐Kohan Zully , Merin Saul , Abeliovich Dvorah 
Published: June 2005

AbstractLinkage analysis of 18 neurofibromatosis type I (NFI) families was performed using intragenic and flanking polymorphic markers. The aims of the analysis were prenatal diagnosis of at‐risk fetuses, and of asymptomatic individuals who were relatives of NFI patients. Prenatal diagnosis was performed in 9 pregnancies of 7 families; 5 fetuses were diagnosed as affected. In 6 families with an affected spouse, the request was to identify informative polymorphisms to be used in future pregnancies. Presymptomatic diagnosis was performed in 4 families. One individual, a brother of an NFI patient, was found to have Lisch nodules as the only NFI symptom. Linkage analysis indicated that if this person is a carrier of the NFI gene, he must be a product of intragenic crossover. In 2 individuals with a new NFI mutation, the origin of the NFI‐bearing chromosomes was paternal. The same observation was noted by others. A summary of published cases shows that some 90% of the NFI‐bearing chromosomes of patients with new mutations were of paternal origin. We therefore suggest that for the purpose of prenatal diagnosis in carriers of NFI new (and unidentified) mutations, the paternal chromosome will be considered as the NFI‐bearing chromosome. © 1994 Wiley‐Liss, Inc.
Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1
Authors: Beighton Peter , Cilliers Hendrik J. , Ramesar Rajkumar 
Published: June 2005

AbstractMolecular investigations have been undertaken in several separate large South African families with autosomal dominant skeletal dysplasias in which premature degenerative osteoarthropathy of the hip joint was the major manifestation. There are sometimes additional minor changes in the spine and these conditions fall into the general spondyloepiphyseal dysplasia (SED) nosological category. In some kindreds, linkage between phenotype and the type II collagen gene (COL2A1) has been established, while in others there is no linkage. We have now completed molecular linkage investigations in an Afrikaner family named Beukes, in which 47 members in 6 generations have premature osteoarthropathy of the hip joint. A LOD score of minus infinity indicates that this condition is not the result of a defect of the COL2A1 gene. © 1994 Wiley‐Liss, Inc.
Potential use of buccal smears for rapid diagnosis of autosomal trisomy or chromosomal sex in newborn infants using DNA probes
Authors: Harris Charles , Wilkerson Craig , Clark Karen , Lazarski Kathra , Meisner Lorraine 
Published: June 2005

AbstractBuccal smears from 3 women and 1 man were probed with alpha satellite DNA probes for chromosomes 8, 18, X, and Y. Buccal smears were also collected from an adolescent phenotypic female with uterine agenesis, as well as from newborn infants with suspected trisomy 18 and trisomy 21. The clinical cases were confirmed with conventional cytogenetic studies of peripheral lymphocytes. Overall probe efficiency at detecting expected chromosome number in interphase cells was found to be 71% ± 6.8%. Higher than expected n‐1 signal numbers may be due to karyopyknotic intermediate epithelial cells present in all collected samples. Overall probe efficiency was found to be consistent using alpha satellite and cosmid probes, both of which accurately reflected the modal copy number of the target chromosomes. False trisomy was less than 1%. This study suggests DNA probes can be used in buccal smears for rapid diagnosis of trisomies and chromosomal sex in new‐borns, but because of high rates of false hypoploid signals, probed buccal smear specimens may not be accurate at diagnosing mosaicism. © 1994 Wiley‐Liss, Inc.
Small terminal deletions of the long arm of chromosome 2: Two new cases
Authors: Fisher Andrew M. , Ellis Katrina H. , Browne Caroline E. , Barber John C. K. , Barker Margaret , Kennedy Colin R. , Foley Helen , Patton Michael A. 
Published: June 2005

AbstractWe report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases. The phenotype associated with small terminal 2q deletions is variable and clearly not always as mild as indicated in previous reports. The abnormality may also be more common than has been assumed. © 1994 Wiley‐Liss, Inc.
Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia
Authors: Mant R. , Williams J. , Asherson P. , Parfitt E. , McGuffin P. , Owen M. J. 
Published: June 2005

AbstractWe have reported an association between schizophrenia and homozygosity of a Bal I polymorphism in the first exon of the dopamine D3 receptor gene (Crocq et al.: Journal of Medical Genetics 29:858–860, 1992). The present study consists of an attempt to replicate this finding in a further sample of 66 patients and 97 controls. Once again more patients than controls were homozygous, but the effect was not as strong as in our first study (χ2 = 2.53, P = 0.05, one tailed). When pooled data from our two studies were analysed, excess homozygosity in patients remained highly significant (P = 0.002) with a particular excess of the 1 : 1 genotype (P = 0.01). This reflected a departure from Hardy‐Weinberg equilibrium in the patients (P = 0.0005) but not the controls (P = 0.24). This led us to explore the possibility that there might be important differences between the patients in our two studies and that excess homozygosity might be a characteristic of particular subgroups of schizophrenics. Our findings suggest that the effect is consistently at its strongest in those patients who have a high familial loading and in those who have a good response to neuroleptic treatment, and that differences between our two samples might have contributed to the quantitatively different outcomes. © 1994 Wiley‐Liss, Inc.
Sequential strategy to identify a susceptibility gene for schizophrenia: Report of potential linkage on chromosome 22q12‐q13.1: Part 1
Authors: Pulver Ann E. , Karayiorgou Maria , Wolyniec Paula S. , Lasseter Virginia K. , Kasch Laura , Nestadt Gerald , Antonarakis Stylianos , Housman David , Kazazian Haig H. , Meyers Deborah , Ott Jurg , Lamacz Malgorzata , Liang Kung‐Yee , Hanfelt John , Ullrich Gail , DeMarchi Nicola , Ramu Elango , McHugh Paul R. , Adler Lawrence , Thomas Marion , Carpenter William T. , Manschreck Theo , Gordon C. T. , Kimberland Michelle , Babb Robert , Puck Jennifer , Childs Barton 
Published: June 2005

AbstractTo identify genes responsible for the susceptibility for schizophrenia, and to test the hypothesis that schizophrenia is etiologically heterogeneous, we have studied 39 multiplex families from a systematic sample of schizophrenic patients. Using a complex autosomal dominant model, which considers only those with a diagnosis of schizophrenia or schizoaffective disorder as affected, a random search of the genome for detection of linkage was undertaken. Pairwise linkage analyses suggest a potential linkage (LRH = 34.7 or maximum lod score = 1.54) for one region (22q12‐q13.1). Reanalyses, varying parameters in the dominant model, maximized the LRH at 660.7 (maximum lod score 2.82). This finding is of sufficient interest to warrant further investigation through collaborative studies. © 1994 Wiley‐Liss, Inc.
Genomic scan for genes predisposing to schizophrenia
Authors: Coon Hilary , Jensen Steven , Holik John , Hoff Mark , Myles‐Worsley Marina , Reimherr Fred , Wender Paul , Waldo Merilyne , Freedman Robert , Leppert Mark , Byerley William 
Published: June 2005

AbstractWe initiated a genome‐wide search for genes predisposing to schizophrenia by ascertaining 9 families, each containing three to five cases of schizophrenia. The 9 pedigrees were initially genotyped with 329 polymorphic DNA loci distributed throughout the genome. Assuming either autosomal dominant or recessive inheritance, 254 DNA loci yielded lod scores less than −2.0 at θ = 0.0, 101 DNA markers gave lod scores less than −2.0 at θ = 0.05, while 5 DNA loci produced maximum lod scores greater than 1: D4S35, D14S17, D15S1, D22S84, and D22S55. Of the DNA markers yielding lod scores greater than 1, D4S35 and D22S55 also were suggestive of linkage when the Affected‐Pedigree‐Member method was used. The families were then genotyped with four highly polymorphic simple sequence repeat markers; possible linkage diminished with DNA markers mapping nearby D4S35, while suggestive evidence of linkage remained with loci in the region of D22S55. Although follow‐up investigation of these chromosomal regions may be warranted, our linkage results should be viewed as preliminary observations, as 35 unaffected persons are not past the age of risk. © 1994 Wiley‐Liss, Inc.
Lack of association between obsessive‐compulsive disorder and the dopamine D3 receptor gene: Some preliminary considerations
Authors: Catalano Marco , Sciuto Gabriella , Di Bella Daniela , Novelli Emanuela , Nobile Maria , Bellodi Laura 
Published: June 2005

AbstractControversial results possibly suggesting an association between Tourette's Syndrome (TS) and excess of homozygosity at a Msc I polymorphism in the Dopamine D3 receptor (DRD3) gene have recently been reported. Since a relationship between Obsessive‐Compulsive Disorder (OCD) and Tourette's Syndrome (TS) has been suggested, in this study we assessed the frequency of this 2‐allele polymorphism in a sample of 97 OCD patients and in 97 control subjects. No statistically significant differences in allele or genotype frequencies were found. Thus this mutation in the coding sequence of the DRD3 gene is unlikely to confer susceptibility to OCD. © 1994 Wiley‐Liss, Inc.
Obesity in heterozygous carriers of the gene for the Bardet‐Biedl syndrome
Authors: Croft Janet B. , Morrell Daphne , Chase Charles L. , Swift Michael 
Published: June 2005

AbstractObesity and renal failure are common manifestations in the autosomal recessive Bardet‐Biedl (BB) syndrome. Because obesity and hypertension have been reported frequently in non‐homozygous relatives of BB patients, we hypothesized that BB heterozygotes are predisposed to these conditions. Clinical information was collected from 34 parents of BB homozygotes, who are obligate heterozygotes. The proportion of severely overweight fathers (26.7%) was significantly higher than that in comparably aged United States white males (8.9%). We conclude that the BB gene may predispose male heterozygous carriers to obesity. If BB heterozygotes are 1% of the general population, we estimate that approximately 2.9% of all severely overweight white males carry a single BB gene. The BB parents of both sexes were also significantly taller than U.S. white men and women of comparable age. © 1995 Wiley‐Liss, Inc.
Natural history study of hereditary multiple exostoses
Authors: Wicklund C. Luckert , Pauli R. M. , Johnston D. , Hecht J. T. 
Published: June 2005

AbstractHereditary multiple exostosis (EXT) is an autosomal dominant disorder in which the clinical hallmark is the growth of bony protuberances from long bones and which can cause a variety of orthopedic deformities. This study sought to further delineate the natural history of EXT. In addition, since previous studies have suggested that there are deviations from Mendelelian expectations in EXT, including incomplete penetrance and a skewed sex ratio, we attempted to confirm or refute these suggestions. Both portions of the study were carried out through retrospective review of 43 affected probands and 137 of their affected relatives. Data are presented concerning frequency and severity of complications of EXT including short stature, sequelae of exostoses, occurrence of malignant degeneration of exostoses, and problems in pregnancy and delivery of affected females. Only 2.8% of the total affected population had experienced exostosis‐related malignancy, an estimate which is considerably less than earlier reports would suggest. Penetrance was 100%. There was an excess of males within the entire affected population (104:76) and within identified probands (28:15). However, the male to female ratio was unskewed in nuclear families (probands, affected sibs, and parents). The excess of males appears to be related to males having more severe and more frequent complications of EXT than having any primary genetic origin. © 1995 Wiley‐Liss, Inc.
XX true hermaphroditism in Southern African Blacks: Exclusion of SRY sequences and uniparental disomy of the X chromosome
Authors: Spurdle Amanda B. , Shankman Sara , Ramsay Michele 
Published: June 2005

AbstractA molecular investigation of 16 Bantu‐speaking Black XX true hermaphrodites was undertaken in an attempt to determine the cause of the disorder. Y‐specific sequences, including sequences mapping to the sexdetermining region of the Y, were shown to be absent from lymphocyte tissue of all 16 patients tested. Y chromosome sequences were also absent from the ovarian and testicular components of both ovotestes of a single XX true hermaphrodite, thus excluding gonadal mosaicism involving Y chromosome sequences. Since there is evidence for Xp genes involved in testis determination/differentiation, uniparental disomy of the X chromosome was investigated in 14 XXTH families. Uniparental disomy was excluded in 12 of the 14 families, and isodisomy was excluded in the remaining two cases. © 1995 Wiley‐Liss, Inc.
Fifty probands with extra structurally abnormal chromosomes characterized by fluorescence in situ hybridization
Authors: Blennow Elisabeth , Nielsen Karen Brøndum , Telenius Håkan , Carter Nigel P. , Kristoffersson Ulf , Holmberg Eva , Gillberg Christopher , Nordenskjöld Magnus 
Published: June 2005

AbstractExtra structurally abnormal chromosomes (ESACs) are small supernumerary chromosomes often associated with developmental abnormalities and malformations. We present 50 probands with ESACs characterized by fluorescence in situ hybridization using centromere‐specific probes and chromosome‐specific libraries. ESAC‐specific libraries were constructed by flow sorting and subsequent amplification by DOP‐PCR. Using such ESAC‐specific libraries we were able to outline the chromosome regions involved.Twenty‐three of the 50 ESACs were inverted duplications of chromosome 15 [inv dup(15)], including patients with normal phenotypes and others with similar clinical symptoms. These 2 groups differed in size and shape of the inv dup(15). Patients with a large inv dup(15), which included the Prader‐Willi region, had a high risk of abnormality, whereas patients with a small inv dup(15), not including the Prader‐Willi region, were normal. ESACs derived from chromosomes 13 or 21 appeared to have a low risk of abnormality, while one out of 3 patients with an ESAC derived from chromosome 14 had discrete symptoms. One out of 3 patients with an ESAC derived from chromosome 22 had severe anomalies, corresponding to some of the manifestations of the cat eye syndrome. Small extra ring chromosomes of autosomal origin and ESACs identified as i(12p) or i(18p) were all associated with a high risk of abnormality. © 1995 Wiley‐Liss, Inc.
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia
Authors: Stoilov Ivaylo , Kilpatrick Michael W. , Tsipouras Petros 
Published: June 2005

AbstractAchondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. Recent studies mapped the achondroplasia gene on chromosome region 4p 16.3 and identified a common mutation in the gene encoding the fibroblast growth factor receptor 3 (FGFR3). In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied. In contrast, the G380R mutation was not found in any of the 8 hypochondroplasia chromosomes studied. Furthermore, linkage studies in a 3‐generation family with hypochondroplasia show discordant segregation with markers in the 4p 16.3 region suggesting that at least some cases of hypochondroplasia are caused by mutations in a gene other than FGFR3. © 1995 Wiley‐Liss, Inc.
New heritable fragile site with spontaneous expression at 1q41
Authors: Dar Hanna , Bar‐El Hanna , Ziv Mira , Shapiro Israel 
Published: June 2005

AbstractThe report presents a family ascertained through recurrent spontaneous abortions in which a new heritable fragile site located at 1q41 is segregating. The fragile site is present in the mother and her son. It is expressed spontaneously in 100% of the metaphases from lymphocyte culture using standard conditions. The use of folate deficient medium and the addition of FUdR to the medium did not affect the appearance nor the level of expression of the fragile site. © 1995 Wiley‐Liss, Inc.
Prenatal diagnosis of recurrence of short rib‐polydactyly syndrome
Authors: Wu Meng‐Hsing , Kuo Pao‐Lin , Lin Shio‐Jean 
Published: June 2005

AbstractWe describe a nonconsanguineous couple whose 3 successive pregnancies, including one pair of twins, led to the birth of 4 infants with short rib‐polydactyly syndrome (SRPS). Flat face, hypoplastic thorax, short limbs and ribs, polydactyly, absence of penis, and death after birth were noted in the first affected male baby. The affected female twins were detected prenatally by ultrasonography and had the same characteristics, but milder than the previous one. Serial measurements of the thoracic circumference and the 4 limbs were obtained by ultrasound, and showed progressively decreased ratio of thoracic to abdominal circumference and shortness of the limbs. The last male baby also had a similar but variable expression in prenatal ultrasonography. © 1995 Wiley‐Liss, Inc.
Clinical and hematologic aspects of the X‐linked α‐thalassemia/mental retardation syndrome (ATR‐X)
Authors: Gibbons R. J. , Brueton L. , Buckle V. J. , Burn J. , Clayton‐Smith J. , Davison B. C. C. , Gardner R. J. M. , Homfray T. , Kearney L. , Kingston H. M. , Newbury‐Ecob R. , Porteous M. E. P. , Wilkie A. O. M. , Higgs D. R. 
Published: June 2005

AbstractThe hallmarks of the X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome are severe psychomotor retardation, minor facial anomalies, genital abnormalities, and an unusual form of α‐thalassemia. The demonstration of HbH inclusions in red blood cells after incubation with brilliant cresyl blue confirms the diagnosis. We describe 15 previously unreported cases and analyse the phenotypic and hematologic findings in these subjects and compare them with previously published cases. This study demonstrates the consistency of the main characteristics of this syndrome and extends the phenotype. Developmental changes in phenotype, in particular the coarsening of the facial appearance, are illustrated. The hematologic findings are shown to vary widely; in some cases the manifestation of α‐thalassemia may be subtle and missed without repeated examination. © 1995 Wiley‐Liss, Inc.
Lethal congenital non‐spherocytic, non‐immune hemolytic anemia with genital and other anomalies in two brothers
Authors: Waters Brenda L. , West Barbara R. 
Published: June 2005

AbstractNon‐consanguineous healthy parents had 2 boys with severe, non‐spherocytic, nonimmune hemolytic anemia, abnormalities of their external genitalia, flat occiput, dimpled earlobes, deep plantar creases, and increased space between their first and second toes. The birth of these children was separated by a spontaneous abortion at 3 months and delivery of a normal girl. We propose that these boys have a heretofore undescribed autosomal or X‐linked recessive syndrome. © 1995 Wiley‐Liss, Inc.