bluuebunny/crossref_metadata_2025_split huggingface dataset:
Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome
Authors: Renieri Alessandra , Galli Lucia , Grillo Alessandra , Bruttini Mirella , Neri Tauro , Zanelli Paola , Rizzoni Gianfranco , Massella Laura , Sessa Adalberto , Meroni Mietta , Peratoner Leopoldo , Riegler Peter , Scolari Francesco , Mileti Maurizio , Giani Marisa , Cossu Maria , Savi Mario , Ballabio Andrea , De Marchi Mario 
Published: June 2005

AbstractMutations in the COL4A5 gene, which encodes the a5 chain of type IV collagen, are found in a large fraction of patients with X‐linked Alport syndrome. The recently discovered COL4A6, tightly linked and highly homologous to COL4A5, represents a second candidate gene for Alport syndrome. We analyzed 177 Italian Alport syndrome families by Southern blotting using cDNA probes from both COL4A5 and COL4A6. Nine unrelated families, accounting for 5% of the cases, were found to have a rearrangement in COL4A5. No rearrangements were found in COL4A6, with the exception of a deletion encompassing the 5′ ends of both COL4A5 and COL4A6 genes in a patient with Alport syndrome and leiomyomatosis. COL4A5 rearrangements were all intragenic and included 1 duplication and 7 deletions. Polymerase chain reaction (PCR) analysis was carried out to characterize deletion and duplication boundaries and to predict and duplication boundaries and to predict the resulting protein abnormality. The two smallest deletions involved a single exon (exons 17 and 40, respectively), while the largest ones spanned exons 1 to 36. The clinical phenotype of patients in whom a rearrangement in COL4A5 was detected was severe, with progression to end‐stage renal failure in juvenile age and hypoacusis occurring in most cases. These data have some important implications in the diagnosis of patients with Alport syndrome. © Wiley‐Liss, Inc.
Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich‐Turner syndrome
Authors: Letterie Gerard S. 
Published: June 2005

AbstractThis is a report of a patient with delayed puberty and a previously unreported translocation 46,X,−X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich‐Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed. © 1995 Wiley‐Liss, Inc.
Infantile variant of Bartter syndrome and sensorineural deafness: A new autosomal recessive disorder
Authors: Landau Daniel , Shalev Hana , Ohaly Meli , Carmi Rivka 
Published: June 2005

AbstractThe infantile variant of Bartter syndrome (IBS) is usually associated with maternal polyhydramnios, premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis and a typical appearance. IBS is thought to be an autosomal recessive trait. Several congenital tubular defects are associated with sensorineural deafness (SND). However, an association between the IBS and SND has not been reported so far. Here we describe 5 children of an extended consanguineous Bedouin family with IBS and SND. In 3 of the cases, the typical electrolyte imbalance and facial appearance were detected neonatally. SND was detected as early as age 1 month, suggesting either coincidental homozygotization of 2 recessive genes or a pleiotropic effect of one autosomal recessive gene. This association suggests that evaluation of SND is warranted in every case of IBS. © 1995 Wiley‐Liss, Inc.
Treatment of obstructive sleep apnea in achondroplasia: Evaluation of sleep, breathing, and somatosensory‐evoked potentials
Authors: Waters Karen A. , Everett Fay , Sillence David O. , Fagan Elizabeth R. , Sullivan Colin E. 
Published: June 2005

AbstractThe occurrence of obstructive sleep apnea (OSA) in achondroplasia has been linked to brain stem compression. Overnight sleep studies (11 subjects) and somatosensoryevoked potentials (SEP's, 10 subjects) were recorded before and after conventional treatment of OSA in achondroplasia. The two groups were derived from 30 subjects who underwent diagnostic sleep studies and SEPs, including 15 females and 15 males with a median age 6.6 of years (range 1.0–47.6) at the time of the first study. In 30 initial studies there was no correlation between severity of OSA and abnormalities on SEP evaluation. Treatment of 17 subjects included adenotonsillectomy (n = 3), weight loss (n = 1), and nasal‐mask continuous positive airway pressure (CPAP) (n = 13). Sleep studies in 11 subjects after a delay of 8.8 ± 2.8 months showed a reduction in respiratory disturbance index (RDI) from 38.4 ± 6.9 to 6.5 ± 1.8 events hr−1 (p < 0.001) and movements/arousals fell from 10.4 ± 2.2 to 4.8 ± 0.2 hr−1 (p < 0.04). Obstructive events were reduced from 33.7 ± 6.9 to 2.4 ± 1.0 hr−1 (p < 0.001). Improvement of respiratory indices was associated with an increased proportion of slow‐wave sleep from 25.2 ± 4.0% to 32.3 ± 2.4% (p = 0.01), and decrease in stage 1–2 sleep from 59.3 ± 5.8% to 46.6 ± 1.9% (p = 0.03). There was no increase in the percentage of REM sleep (15.2% to 21.2%). Repeat SEP studies in 10 subjects, after clinically effective treatment of OSA, showed improvement of SEP score of at least 1 grade, in 5 of 7 (71%) with initially abnormal values. We conclude that treatment to relieve upper airway obstruction improves OSA in achondroplasia, accompanied by changes in sleep structure and, in some cases, improved studies of neurological function. © 1995 Wiley‐Liss, Inc.
Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: A new syndrome
Authors: Ferlini Alessandra , Ragno Michele , Gobbi Paola , Marinucci Carlo , Rossi Roberto , Zanetti Adele , Milan Mario , Camera Gianni , Calzolari Elisa 
Published: June 2005

AbstractWe report on a family in which a mother and her 3 daughters have delayed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, skeletal anomalies consisting of brachydactyly, and Sprengel anomaly. Biochemical and cytogenetic analyses were normal on all 4 patients. The pattern of inheritance, clinical manifestations, and variability of expression suggest that this is a new hydrocephalus syndrome possibly transmitted as an X‐linked dominant trait. © 1995 Wiley‐Liss, Inc.
Lethal syndrome of slender bones, intrauterine fractures, characteristic facial appearance, and cataracts, resembling Hallermann‐Streiff syndrome in two sibs
Authors: Dennis Nicholas R. , Fairhurst Joanne , Moore Isabella E. 
Published: June 2005

AbstractWe report on a family in which 1 male infant who died neonatally and 1 female fetus at 29 weeks of gestation had an identical condition resembling Hallermann‐Streiff syndrome. The long bones were slender with a few fractures, the skull was underossified, and the face was characteristic of Hallermann‐Streiff syndrome. Bilateral cataracts were identified in the male. We regard the condition in this family as a severe form of Hallermann‐Streiff syndrome, which appears to have been lethal, at least in the liveborn male. This syndrome is usually sporadic. Recurrence in sibs suggests the possibility of autosomal‐recessive inheritance, or of a dominant mutation with parental mosaicism. © 1995 Wiley‐Liss, Inc.
Maternal periconceptional use of multivitamins and reduced risk for conotruncal heart defects and limb deficiencies among offspring
Authors: Shaw Gary M. , O'Malley Cynthia D. , Wasserman Cathy R. , Tolarova Marie M. , Lammer Edward J. 
Published: June 2005

AbstractWe investigated whether a woman's periconceptional use of a multivitamin containing folic acid was associated with a reduced risk for delivering offspring with a conotruncal heart defect or a limb deficiency. Data were derived from a population‐based case‐control study of fetuses and liveborn infants with conotruncal or limb defects among a 1987–88 cohort of births in California. Telephone interviews were conducted with mothers of 207 (87.0% of eligible) conotruncal cases, 178 (82.0%) limb defect cases, and of 481 (76.2%) randomly selected liveborn nonmalformed control infants. Reduced risks were observed for maternal use of multivitamins containing folic acid from one month before until two months after conception. Odds ratios and 95% confidence intervals for any compared to no multivitamin use were 0.70 (0.46–1.1) for conotruncal defects and 0.64 (0.41–1.0) for limb defects. Controlling for maternal race/ethnicity, age, education, gravidity, alcohol use, and cigarette use resulted in a further reduction to the odds ratio for conotruncal defects, 0.53 (0.34–0.85), but not for limb defects. Among non‐vitamin using women, consumption of cereal containing folic acid was also associated with reduced risks for both defects. Women who take multivitamins have 30–35% lower risk of delivering offspring with either conotruncal or limb defects. This association may not be attributable to folic acid specifically, but may be a consequence of other multivitamin components, or some unknown behaviors that highly correlate with regular use of a multivitamin. However, should the association prove causal, it offers an important opportunity for preventing thousands of serious birth defects. © 1995 Wiley‐Liss, Inc.
Schizoaffective psychoses: Genetical clues to classification
Authors: Bertelsen Aksel , Gottesman Irving I. 
Published: June 2005

AbstractThe diagnostic classification of schizoaffective psychoses has varied much since Kasanin introduced the concept in 1933. The various classifications have agreed that schizoaffective psychoses present a combination of schizophreniform and affective symptoms, but the diagnostic criteria differ as to the number, quality, and time sequence of the symptoms even in recent classifications like RDC, DSM‐III‐R, and ICD‐10. The classifications are syndromatical, and the etiology of the schizoaffective psychoses is still undetermined apart from evidence for a strong genetic factor. Results from family, twin, and adoption studies are divergent, but all the same, support a separate classification of broadly defined schizoaffective psychoses as possibly being phenotypical variations or expressions of genetic interforms between schizophrenia and affective psychoses. © 1995 Wiley‐Liss, Inc.
Becker and limb‐girdle muscular dystrophies: A psychiatric and intellectual level comparative study
Authors: Melo Marcio , Lauriano Valèria , Gentil Valentim , Eggers Sabine , Del Bianco Sidionira Santos , Gimenez Paulo Rogério , Akiyama Jeanne , Okabaiashi Helena , Frota‐Pessoa Oswaldo , Passos‐Bueno Maria Rita , Zatz Mayana 
Published: June 2005

AbstractThere are some indications that Becker muscular dystrophy (BMD) might be related to mental disorders and mental retardation (MR). To investigate this question, we made a standardized psychiatric and intellectual level assessment of 22 BMD patients in comparison with 22 limb‐girdle muscular dystrophy (LGMD) patients. There were not significant differences between the two groups. Twelve patients (54.5%) in each group received at least one lifetime psychiatric diagnosis, the most frequent being depressive disorders. The intelligence quotient means for BMD was 85.9 and 87.8 for LGMD. There was one case of mild MR among BMD patients and two cases among LGMD patients. © 1995 Wiley‐Liss, Inc.
Quantitative genetic analysis of injury liability in infants and toddlers
Authors: Phillips Kay , Matheny Adam P. 
Published: June 2005

AbstractA threshold model of latent liability was applied to infant and toddler twin data on total count of injuries sustained during the interval from birth to 36 months of age. A quantitative genetic analysis of estimated twin correlations in injury liability indicated strong genetic dominance effects, but no additive genetic variance was detected. Because interpretations involving overdominance have little research support, the results may be due to low order epistasis or other interaction effects. Boys had more injuries than girls, but this effect was found only for groups whose parents were prompted and questioned in detail about their children's injuries. Activity and impulsivity are two behavioral predictors of childhood injury, and the results are discussed in relation to animal research on infant and adult activity levels, and impulsivity in adult humans. Genetic epidemiological approaches to childhood injury should aid in targeting higher risk children for preventive intervention. © 1995 Wiley‐Liss, Inc.
No association between schizophrenia and polymorphisms within the genes for debrisoquine 4‐hydroxylase (CYP2D6) and the dopamine transporter (DAT)
Authors: Daniels J. , Williams J. , Asherson P. , McGuffin P. , Owen M. 
Published: June 2005

AbstractIt has been suggested that the cytochrome P450 mono‐oxygenase, debrisoquine 4‐hydroxylase, is involved in the catabolism and processing of neurotransmitters subsequent to their reuptake into target cells. It is also thought to be related to the dopamine transporter that acts to take released dopamine back up into presynaptic terminals. The present study used the association approach to test the hypothesis that mutations in the genes for debrisoquine 4‐hydroxylase (CYP2D6) and the dopamine transporter (DAT) confer susceptibility to schizophrenia. There were no differences in allele or genotype frequencies between patients and controls in the mutations causing the poor metaboliser phenotype in CYP2D6. In addition there was no association found between schizophrenia and a 48bp repeat within the 3′ untranslated region of DAT. © 1995 Wiley‐Liss, Inc.
Normal CAG and CCG repeats in the Huntington's disease genes of Parkinson's disease patients
Authors: Rubinsztein David C. , Leggo Jayne , Goodburn Sandy , Barton David E. , Ferguson‐Smith Malcolm A. 
Published: June 2005

AbstractThe clinical features of Parkinson's disease, particularly rigidity and bradykinesia and occasionally tremor, are seen in juvenile‐onset Huntington's disease. Therefore, the CAG and CCG repeats in the Huntington's disease gene were investigated in 45 Parkinson's disease patients and compared to 40 control individuals. All of the Parkinson's disease chromosomes fell within the normal size ranges. In addition, the distributions of the two repeats in the Parkinson's disease patients did not differ significantly from those of the control population. Therefore, abnormalities of these trinucleotide repeats in the Huntington's disease gene are not likely to contribute to the pathogenesis of Parkinson's disease. © 1995 Wiley‐Liss, Inc.
Familial cosegregation of manic‐depressive illness and a form of hereditary cerebellar ataxia
Authors: Piqueras José Fernández , Santos Javier , Visedo Guillermo , de Castro Ignacio Pérez , Puertollano Rosa , Montejo Julieta , Tello Cristina Ramo , Valle Jesús 
Published: June 2005

AbstractWe report on a Spanish family with cooccurrence of manic‐depression and a form of hereditary cerebellar ataxia. All affected individuals in the second generation showed cerebellar ataxia and manic‐depression simultaneously. Since anticipation has been described in both disorders and the pattern of segregation may be autosomal as well as X‐linked, we have searched for a possible involvement of two candidate genes which are located either on an autosome (SCA1) or on the X‐chromosome (GABRA3). We concluded that expansion of trinucleotide repeats at SCA1 gene cannot be considered as a disease‐causing mutation, and this gene should be initially discarded. © 1995 Wiley‐Liss, Inc.
Structural change in dopamine D2 receptor gene in a patient with neuroleptic malignant syndrome
Authors: Ram Anca , Cao Qiuhe , Keck Paul E. , Pope Harrison G. , Otani Koichi , Addonizio Gerard , McElroy Susan L. , Kaneko Sunao , Redlichova Michaela , Gershon Elliot S. , Gejman Pablo V. 
Published: June 2005

AbstractDysfunction of the dopaminergic system has been suggested as a pathogenic mechanism in neuroleptic malignant syndrome. Therefore, we examined the complete coding sequences of the dopamine D2 receptor (DRD2) gene for structural abnormalities in 12 patients with a history of NMS, including two cases of familial NMS. Mutational analysis was performed by denaturing gradient gel electrophoresis (DGGE), a highly sensitive technique for detecting sequence differences. We found in one patient with a history of NMS a nucleotide substitution at codon 310 (CCG→TCG) of exon 7 of the DRD2 gene which predicts the replacement of proline to serine in the third cytoplasmic loop of the receptor, a part of the receptor that interacts with G‐proteins. A larger series of patients with NMS needs to be investigated to establish whether this allele is associated with an increased susceptibility to NMS. © 1995 Wiley‐Liss, Inc.
Search for a gene predisposing to manic‐depression on chromosome 21
Authors: Byerley William , Holik John , Hoff Mark , Coon Hilary 
Published: June 2005

AbstractSix kindreds containing multiple cases of Manic‐depressive illness (MDI) were genotyped with seven highly polymorphic microsatellite loci used in the construction of an index map for chromosome 21. The kindreds were also genotyped with a microsatellite polymorphism for PFKL, a chromosome 21 locus that has shown suggestive linkage to MDI in one pedigree [Straub et al., 1993: The American Society of Human Genetics]. Evidence of linkage was not found assuming either autosomal dominant or recessive inheritance. The nonparametric affected sib pair test did not yield significant evidence of linkage. © 1995 Wiley‐Liss, Inc.
Autism and genetics: Clinical approach and association study with two markers of HRAS gene
Authors: Hérault Josiane , Petit Elisabeth , Martineau Joëlle , Perrot Anne , Lenoir Pascal , Cherpi Catherine , Barthélémy Catherine , Sauvage Dominique , Mallet Jacques , Müh Jean Pierre , Lelord Gilbert 
Published: June 2005

AbstractTwin studies and familial aggregation studies indicate that genetic factors could play a role in infantile autism. In an earlier study, we identified a possible positive association between autism and a c‐Harvey‐ras (HRAS) oncogene marker at the 3′ end of the coding region. In an attempt to confirm this finding, we studied a larger population, well‐characterized clinically and genetically. We report a positive association between autism and two HRAS markers, the 3′ marker used in the initial study and an additional marker in exon 1. © 1995 Wiley‐Liss, Inc.
Confirmation of locus heterogeneity in the pure form of familial spastic paraplegia
Authors: Speer Marcy C. , Kingston Helen M. , Boustany Rose‐Mary N. , Gaskell Peter C. , Robinson L. Christi , Lennon Felicia , Wolpert Chantelle M. , Yamaoka Larry H. , Kahler Stephen G. , Hogan Edward L. , Cumming W. J. K. , Pericak‐Vance Margaret A. 
Published: June 2005

AbstractFamilial spastic paraplegia (FSP), characterized by progressive spasticity of the lower extremities, is in its “pure” form generally of autosomal dominant inheritance pattern. Hazan et al. [Nat Genet 5:163‐167, 1993] reported tight linkage of a large FSP family to the highly polymorphic micro‐satellite marker D14S269 with z (θ) = 8.49 at θ = 0.00 They further demonstrated evidence for locus heterogeneity when they showed that 2 FSP families were unlinked to this region. We have subsequently studied 4 FSP families (3 American, one British) and excluded the disease locus in these families for approximately 30 cM on either side of D14S269, thereby confirming evidence for locus heterogeneity within the spastic paraplegia diagnostic classification. © 1995 Wiley‐Liss, Inc.
17q inversion involving the neurofibromatosis type one locus in a family with neurofibromatosis type one
Authors: Asamoah Alexander , North Kathryn , Doran Steve , Wagstaff Joseph , Ogle Robert , Collins Francis S. , Korf Bruce R. 
Published: June 2005

AbstractWe report a family with a paracentric inversion of the long arm of chromosome 17 [inv(17)(q11.2q25.1)] and neurofibromatosis type one (NF1). The family was ascertained because of NF1 and multiple miscarriages. Fluorescence in situ hybridization using cosmid probes from opposite ends of the NF1 gene confirmed that the inversion disrupts the gene. Using field inversion gel electrophoresis we have found that the inversion separates cDNA probes FB5D and AE25, which are normally adjacent to one another in the NF1 gene. This is the third published report of a gross chromosomal rearrangement responsible for NF1. The features in this family are typical for NF1, and are not unusually severe. © 1995 Wiley‐Liss, Inc.
Two sisters with clinical diagnosis of Wiskott‐Aldrich syndrome: Is the condition in the family autosomal recessive?
Authors: Kondoh T. , Hayashi K. , Matsumoto T. , Yoshimoto M. , Morio T. , Yata J. , Tsuji Y. 
Published: June 2005

AbstractWe report two sisters in a family representing manifestations of Wiskott‐Aldrich syndrome' (WAS), an X‐linked immunodeficiency disorder. An elder sister had suffered from recurrent infections, small thrombocy‐topenic petechiae, purpura, and eczema for 7 years. The younger sister had the same manifestations as the elder sister's for a 2‐year period, and died of intracranial bleeding at age 2 years. All the laboratory data of the two patients were compatible with WAS, although they were females. Sialophorin analysis with the selective radioactive labeling method of this protein revealed that in the elder sister a 115‐KD band that should be specific for sialophorin was reduced in quantity, and instead an additional 135‐KD fragment was present as a main band. Poly‐merase chain reaction (PCR) analysis of the sialophorin gene and single‐strand conformation polymorphism (SSCP) analysis of the PCR product demonstrated that there were no detectable size‐change nor elec‐trophoretic mobility change in the DNA from both patients. The results indicated that their sialophorin gene structure might be normal. Studies on the mother‐daughter transmission of X chromosome using a pERT84‐MaeIII polymorphic marker mapped at Xp21 and HPRT gene polymorphism at Xq26 suggested that each sister had inherited a different X chromosome from the mother. Two explanations are plausible for the occurrence of the WAS in our patients: the WAS in the patients is attributable to an autosomal gene mutation which may regulate the sialophorin gene expression through the WAS gene, or, alternatively, the condition in this family is an autosomal recessive disorder separated etiologically from the X‐linked WAS. © 1995 Wiley‐Liss, Inc.