bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital heart defects in Aarskog syndrome
Authors: Fernandez Isabel , Tsukahara Masato , Mito Hiroshi , Yoshii Hideki , Uchida Masashi , Matsuo Kiyosato , Kajii Tadashi 
Published: June 2005

AbstractWe report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were detected respectively, in 2 of them as an uncommon finding. A review documented 169 non‐Japanese cases (2 with congenital heart defects), while of 30 Japanese individuals reported till now, 4 (including ours) had cardiac anomalies. We propose that this combination is not coincidental and that in all cases of Aarskog syndrome a cardiac evaluation is indicated. © 1994 Wiley‐Liss, Inc.
RSH/SLO (“Smith‐Lemli‐Opitz”) syndrome: Historical, genetic, and developmental considerations
Authors: Opitz John M. 
Published: June 2005

AbstractThirty years after the publication of Smith et al. [1964: J Pediatr 64:210–217] of 3(4) cases of the RSH/SLO (“Smith‐Lemli‐Opitz”) syndrome and after the publication by Roux [1964: Arch Franç Pédiatr 21:451–464] on the teratogenic action of Triparanol, a defect of cholesterol metabolism was discovered by Tint and his co‐workers in the blood of the patients of Irons and Elias [Irons et al., 1993: Lancet 341:1414]. In this manner, the RSH syndrome has been identified as another metabolic multiple congenital anomalies/mental retardation (MCA/MR) syndrome (prototype Zellweger syndrome) in which deficient cholesterol synthesis must be held responsible for all parts of the syndrome, including blastogenetic and organogenetic malformations, minor anomalies, more or less severe abnormalities of CNS and PNS structure and function, postnatal failure to thrive, and, in some cases, stillbirth or infancy/childhood death. © 1994 Wiley‐Liss, Inc.
Nutritional requirements of infants and children with respect to cholesterol and related compounds
Authors: Barness Lewis A. 
Published: June 2005

AbstractCholesterol is an enigmatic, essential metabolite. Breast milk contains significant quantities of cholesterol, yet human infants thrive on cholesterol‐free diets. Recommendations to lower serum cholesterol are widespread, yet low serum cholesterol is associated with poorly understood morbidity. Serum cholesterol is increased with diets high in fat, yet dietary cholesterol has relatively little effect on serum concentrations. Smith‐Lemli‐Opitz syndrome, marked with extremely low serum cholesterol, may serve as a human model for the evaluation of absorption and metabolism of dietary cholesterol. © 1994 Wiley‐Liss, Inc.
Female pseudohermaphroditism with multiple caudal anomalies: Absence of Y‐specific DNA sequences as pathogenetic factors
Authors: Seaver Laurie H. , Grimes Judy , Erickson Robert P. 
Published: June 2005

Abstract46,XX female pseudohermaphrodites have been previously described with nearly complete masculinization of the external genitalia and no apparent source of testosterone. Multiple malformations of internal genital, urinary, and gastrointestinal tracts are associated. We have evaluated four such infants with female pseudohermaphroditism and multiple caudal anomalies. Three cases had apparently normal chromosomes (46,XX); one had a 46,XX,del(10)(q25.3→qter) chromosome constitution. The chromosome breakpoint is in the region of PAX2, a developmentally important paired box gene which is expressed in urogenital tissue. Using the polymerase chain reaction, we screened for the presence of multiple Y specific sequences, including SRY (sex determining region, Y chromosome), that could explain masculinization of the external genitalia. All were negative for Y centromeric sequences, ZFY(Zinc finger Y), and SRY. Furthermore, there was no evidence for adrenal or other sources of testosterone. We suggest that the masculinization in these cases is the result of abnormal expression of genes which would normally be regulated by testosterone. © 1994 Wiley‐Liss, Inc.
Investigation of the potential role of genetic imprinting in Gilles de la Tourette syndrome
Authors: Furtado Sarah , Suchowersky Oksana 
Published: June 2005

AbstractGenetic imprinting refers to the phenomenon whereby the precise expression of a specific trait (or disease) may depend on the sex of the transmitting parent. The purpose of the present project was to investigate the possibility for the involvement of genetic imprinting in Tourette syndrome (TS), a disease of the central nervous system in which many cases show evidence of an autosomal dominant mode of inheritance. The justification for the study arose from the noted variable expression of the associated symptoms in TS.Through the method of chart review, information regarding sex of the transmitting parent, age of onset of motor tics, as well as associated symptoms, was gathered from patients with a clear family history of TS consistent with autosomal dominant mode of transmission. No evidence was found for genetic imprinting in TS. The potential criticisms and implications of this finding are discussed. © 1994 Wiley‐Liss, Inc.
Genetic linkage analysis of familial amyotrophic lateral sclerosis using human chromosome 21 microsatellite DNA markers
Authors: Rosen D. R. , Sapp P. , O'Regan J. , McKenna‐Yasek D. , Schlumpf K. S. , Haines J. L. , Gusella J. F. , Horvitz H. R. , Brown R. H. 
Published: June 2005

AbstractAmyotrophic lateral sclerosis (ALS; Lou Gehrig's Disease) is a lethal neurodegenerative disease of upper and lower motorneurons in the brain and spinal cord. We previously reported linkage of a gene for familial ALS (FALS) to human chromosome 21 using 4 restriction fragment length polymorphism DNA markers [Siddique et al.: N Engl J Med 324:1381–1384, 1991] and identified disease‐associated mutations in the superoxide dismutase (SOD)‐1 gene in some ALS families [Rosen et al.: Nature 362:59–62, 1993]. We report here the genetic linkage data that led us to examine the SOD‐1 gene for mutations. We also report a new microsatellite DNA marker for D21S63, derived from the cosmid PW517 [VanKeuren et al.: Am J Hum Genet 38:793–804, 1986]. Ten microsatellite DNA markers, including the new marker D21S63, were used to reinvestigate linkage of FALS to chromosome 21. Genetic linkage analysis performed with 13 ALS families for these 10 DNA markers confirmed the presence of a FALS gene on chromosome 21. The highest total 2‐point LOD score for all families was 4.33, obtained at a distance of 10 cM from the marker D21S223. For 5 ALS families linked to chromosome 21, a peak 2‐point LOD score of 5.94 was obtained at the DNA marker D21S223. A multipoint score of 6.50 was obtained with the markers D21S213, D21S223, D21S167, and FALS for 5 chromosome 21‐linked ALS families. The haplotypes of these families for the 10 DNA markers revealed recombination events that further refined the location of the FALS gene to a segment of approximately 5 megabases (Mb) between D21S213 and D21S219. The only characterized gene within this segment was SOD‐1, the structural gene for Cu, Zn SOD. © 1994 Wiley‐Liss, Inc.
Tetra‐amelia, lung hypo‐/aplasia, cleft lip‐palate, and heart defect: A new syndrome?
Authors: Başaran S. , Yüksel A. , Ermiş H. , Kuseyri F. , Aǧan M. , Yüksel‐Apak M. 
Published: June 2005

AbstractWe report on a family with two sons affected with tetra‐amelia, cleft lip‐palate, bilateral agenesis of lungs, and heart defects. These two cases support the previous suggestions that this complex entity may indeed represent a new syndrome. However, the mode of inheritance is still not clarified. © 1994 Wiley‐Liss, Inc.
Hypothalamic hamartoma in oral‐facial‐digital syndrome type VI (Váradi syndrome)
Authors: Stephan Mark J. , Brooks Kenneth L. , Moore Dan C. , Coll Edward J. , Goho Curt 
Published: June 2005

AbstractOral‐facial‐digital syndrome (OFDS) type VI (Váradi syndrome) is an autosomal recessive trait of orofacial anomalies, cerebellar dysgenesis, and polysyndactyly. Developmental anomalies of the posterior fossa, including cerebellar hypoplasia and variants of the Dandy‐Walker complex, are the most common central nervous system malformations reported in patients with this syndrome. We report hypothalamic hamartoma, supernumerary maxillary incisor, and precocious puberty in a boy with OFDS type VI. We propose that hypothalamic hamartoma is an occasional manifestation of OFDS type VI. © 1994 Wiley‐Liss, Inc.
Identification of the I507 deletion by site‐directed mutagenesis
Authors: Orozco Lorena , Friedman Kenneth , Chávez Margarita , Lezana José Luis , Villarreal María Teresa , Carnevale Alessandra 
Published: June 2005

AbstractWe describe a compound heterozygous Δ‐F508/Δ‐I507 cystic fibrosis patient. Molecular analysis by polymerase chain reaction (PCR)‐mediated site‐directed mutagenesis showed the 219 bp fragment observed in Δ‐F508 homozygotes. The father showed a Δ‐F508 heterozygous pattern while the mother and sister showed a normal pattern. There were four possibilities to explain these results: a) the patient was a Δ‐F508/Δ‐I507 compound heterozygote, because the Δ‐I507 allele fails to amplify when analyzed with Δ‐F508 primers due to a double mismatch between the primers and template; b) uniparental isodisomy; c) nonmaternity; and d) sample processing mix‐up.We then tested for the Δ‐I507 mutation using specific primers with a single base mismatch, and we found that the patient was in fact a compound heterozygote who inherited the Δ‐F508 mutation from the father and the Δ‐I507 from the mother. We underscore the need to detect this rare deletion in patients showing a Δ‐F508 homozygous pattern when one parent, particularly the father, is a noncarrier. © 1994 Wiley‐Liss, Inc.
Distinct phenotype in maternal uniparental disomy of chromosome 14
Authors: Healey Sue , Powell Fiona , Battersby Miriam , Chenevix‐Trench Georgia , McGill James 
Published: June 2005

AbstractWe report on the occurrence of maternal uniparental disomy for chromosome 14 (mUPD14) in a 4‐year‐old girl with a de novo Robertsonian translocation, 45,XX,t (13q,14q). The child has arrested hydrocephalus, short stature, minor anomalies, small hands with hyperextensible joints, and mild to moderate developmental delay. Comparison of her phenotype with those of three previously described individuals show some common distinct traits which suggest a mUPD14 syndrome. © 1994 Wiley‐Liss, Inc.
DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish‐Polish‐Russian descent
Authors: Choy Francis Y. M. , Wei Chao , Applegarth Derek A. , McGillivray Barbara C. 
Published: June 2005

AbstractGaucher disease is the most frequent lysosomal lipid storage disease. It results from deficient glucocerebrosidase activity and is transmitted as an autosomal recessive trait. Three clinical forms of Gaucher disease have been described: type 1, non‐neuronopathic; type 2, acute neuronopathic; and type 3, subacute neuronopathic. We have sequenced the full length cDNA of the gluco cerebrosidase gene and identified an uncommon mutation in nucleotide position 1604 (genomic DNA nucleotide position 6683) from a Gaucher disease patient of Jewish‐Polish‐Russian descent with type 1 Gaucher disease. It is a G→A transition in exon 11 that results in 496Arg→496 His of glucocerebrosidase. This missense mutation is present in the heterozygous form and creates a new cleavage site for the endonuclease HphI. We have developed a simple method to detect the presence of this mutation by using HphI restriction fragment length polymorphism analysis of glucocerebrosidase genomic DNA or cDNA. The mutation in the other Gaucher allele of this patient is an A→G transition at cDNA nucleotide position 1226 which creates an XhoI cleavage site after PCR mismatch amplification. The presence of this mutation was also confirmed by sequence analysis. Based on previous reports that mutation 1226 is present only in type 1 Gaucher disease and the observation that there is no neurological involvement in this patient, we conclude that our patient with the 1226/1604 genotype is diagnosed as having type 1 Gaucher disease. Since it was also postulated that mutation 1226 in the homozygous form will usually result in a good prognosis, we speculate that the orthopedic complications and the unusual presence of glomerulosclerosis in this patient may be attributable to the mutation at nucleotide 1604. This speculation will require a description of more patients with this mutation for confirmation. © 1994 Wiley‐Liss, Inc.
Bone dysplasia in a child born to parents with osteogenesis imperfecta and pseudoachondroplasia
Authors: Kitoh Hiroshi , Oki Takashi , Arao Kazuhiko , Nogami Hiroshi 
Published: June 2005

AbstractWe report on a boy born to a mother with pseudoachondroplasia and a father with osteogenesis imperfecta (Sillence type III). At birth, the boy was found to have osteogenesis imperfecta type III. Although clinical findings of pseudoachondroplasia were not manifested at the age of 8 months, roentgenographic findings showed characteristics of pseudoachondroplasia in addition to those of osteogenesis imperfecta. He died of respiratory distress at age 15 months. © 1994 Wiley‐Liss, Inc.
New syndrome: Autosomal dominant microcephaly and radio‐ulnar synostosis
Authors: Giuffrè Liborio , Corsello Giovanni , Giuffrè Mario , Piccione Maria , Albanese Achille 
Published: June 2005

AbstractTo date, the combination of microcephaly and radio‐ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1). © 1994 Wiley‐Liss, Inc.
Molecular‐neurobehavioral associations in females with the fragile X full mutation
Authors: Abrams Michael T. , Reiss Allan L. , Freund Lisa S. , Baumgardner Thomas L. , Chase Gary A. , Denckla Martha B. 
Published: June 2005

AbstractIn this study, young females with the fragile X [fra(X)] full mutation (fM) were assessed using quantitative measures of mutation amplification size (Amp) as well as the ratio of active normal X chromosome to total normal X chromosome (activation ratio‐AR). Neurobehavioral assessments of females with the fM were performed and included specific and general measures of cognitive and behavioral/developmental functioning. To investigate molecular‐behavioral associations, Amp and AR were used as independent variables, while cognitive and behavioral scores were used as dependent variables. Significant correlations were observed between both molecular variables (Amp and AR) and measures of cognitive functioning, with AR showing the most consistent and robust correlations. As AR increased, overall IQ and specific subtest and area scores from the cognitive tests increased. Conversely, as Amp increased, the overall IQ and specific subtest and area cognitive scores decreased. No significant associations were observed between AR or Amp and measures of behavior or development. The molecular‐cognitive associations were generally consistent with the cognitive profile previously described in studies comparing females with fra(X) to age‐matched controls. Amp and AR were not associated with one another, nor were they associated with the same cluster of cognitive measures. Though this report does not conclusively show that AR and Amp can be used to clinically assess the risk of a female with the fM for cognitive disability, the evidence presented does suggest that these molecular variables, especially AR, reflect important underlying genetic factors contributing to the fra(X) phenotype. © 1994 Wiley‐Liss, Inc.
Obstetrical and gynecological complications in fragile X carriers: A multicenter study
Authors: Schwartz C. E. , Dean J. , Howard‐Peebles P. N. , Bugge M. , Mikkelsen M. , Tommerup N. , Hull C. , Hagerman R. , Holden J. J. A. , Stevenson R. E. 
Published: June 2005

AbstractWe have conducted a multicenter obstetrical and gynecological survey of women in fragile X families. Included in the study were 131 gene carriers (39 with a full mutation and 92 with a premutation) and 109 noncarriers. Analysis indicated that higher numbers of fragile X gene carriers reported having irregular menses and other gynecological complications. As a group they also experienced cessation of menses prior to age 40 years at a significantly higher rate. The data appear to indicate that the FMR1 gene may play a role in the development and proliferation of oogonia. © 1994 Wiley‐Liss, Inc.
Haplotype analysis at the FRAXA locus in the Japanese population
Authors: Richards Robert I. , Kondo Ikuko , Holman Kathy , Yamauchi Masatake , Seki Naohiko , Kishi Kunikazu , Staples Alan , Sutherland Grant R. , Hori Tada‐Aki 
Published: June 2005

AbstractFragile X syndrome, one of the most common human genetic diseases, is characterized by a unique genetic mechanism which involves dynamic mutation in a heritable unstable DNA sequence, a p(CCG)n repeat, in the FRAXA locus. It has recently been suggested that a few founder chromosomes are responsible for most fragile X mutations in the Caucasian population. In order to investigate the origin of the fragile X mutations in the Japanese population, we analyzed haplotypes of the FRAXA locus in 40 unrelated fragile X chromosomes and 142 normal X chromosomes in Japanese males, by using two polymorphic AC repeats, FRAXAC1 and FRAXAC2, which flank the fragile site. This analysis provided evidence for founder fragile X chromosomes in the Japanese population, similar to that in Caucasians, although different haplotypes are involved. The distribution of normal allele size of the p(CCG)n repeat among the X chromosomes in the Japanese population is very similar to that reported for Caucasians, except that the most frequent copy number (n = 28) is one copy less than that in Caucasians and that there is an additional peak at 35 copies. There is significant correlation between FRAXAC alleles and the p(CCG)n repeat copy number in non‐fragile X chromosomes, however, alleles with more than 31 copies of the p(CCG)n repeat do not segregate with either of the fragile X common FRAXAC haplotypes. © 1994 Wiley‐Liss, Inc.
Relationship of expansion of CGG repeats and X‐inactivation with expression of fra(X) (q27.3) in heterozygotes
Authors: Mingroni‐Netto Regina C. , Fernandes J. G. , Vianna‐Morgante Angela M. 
Published: June 2005

AbstractExpression of the fragile site Xq27.3 was investigated in 82 heterozygotes (58 normal and 24 mentally impaired) diagnosed by DNA analysis. EcoRI and EagI DNA digests were probed with StB12.3. This allowed the detection of the expansion of the CGG repeat of the FMR1 gene and the methylation pattern of the adjacent CpG island. Heterozygotes with Δ ≤400 bp (52/82) were all mentally normal and manifested fra(X) in less than 3% of the cells or did not express it. Unmethylated mutant alleles were always observed. About two thirds of females with Δ >500 bp (21/30) showed fra (X) frequencies above 3% (3 normal and 18 mentally impaired). Lower frequencies of fra (X) or negative results were observed in the remaining 9 females (3 normal and 6 affected). The large mutant alleles were always methylated. Therefore, while Δ ⩽400 bp is always associated with negative or low expression of fra (X), larger expansions are not present exclusively in heterozygotes with high frequencies of fra (X).In 25 of 30 heterozygotes with Δ >500 bp, active and inactive normal alleles were observed. Three fra (X)‐negative or low manifesting heterozygotes showed completely skewed X‐inactivation, with the normal allele either active or inactive. Two females with high frequencies of fra (X) always had the normal allele inactivated. Densitometry studies showed no difference in the inactivation of the normal allele between heterozygotes who manifested fra (X) or not. Thus fra (X) expression does not seem to be influenced by X‐inactivation. © 1994 Wiley‐Liss, Inc.
XLMR genes: Update 1994
Authors: Neri Giovanni , Chiurazzi Pietro , Arena J. Fernando , Lubs Herbert A. 
Published: June 2005

AbstractWe provide a comprehensive list of all known forms of X‐linked mental retardation. It comprises 127 entries, subdivided into 5 categories (syndromes, dominant disorders, metabolic disorders, neuromuscular disorders, and nonspecific mental retardation). Map location of 69 putative loci demonstrates several overlaps, which will only be resolved by more refined mapping or cloning of the respective genes.The ultimate goal of identifying all the genes on the X chromosome whose mutations cause mental retardation will require a concerted effort between clinical and molecular investigators. © 1994 Wiley‐Liss, Inc.
Pericentromeric genes for non‐specific X‐linked mental retardation (MRX)
Authors: Gedeon Agi , Kerr Bronwyn , Mulley John , Turner Gillian 
Published: June 2005

AbstractExtensive linkage analyses in three families with non‐specific X‐linked mental retardation (MRX) have localized the gene in each family to the pericentromeric region of the chromosome. The MRX17 gene is localized with a peak lod of 2.41 (θ = 0.0) with the trinucleotide repeat polymorphism at the androgen receptor (AR) gene locus. This gene lies in the interval between the markers DXS255 and DXS990, as defined by recombinants. The MRX18 gene maps to the interval between the markers DXS538 and DXS1126, with a peak lod score of 2.01 (θ = 0.0) at the PFC gene locus. In the third family (Family E) with insufficient informative meioses for assignment of an MRX acronym, the maximum lod score is 1.8 at a recombination fraction of zero for several marker loci between DXS207 and DXS426. Exclusions from the regions of marker loci spanning Xq support the localization of the MRX gene in Family E to the pericentromeric region.Localizations of these and other MRX genes have determined that MRX2 and MRX19 map to distal Xp, MRX3, and MRX6 map to distal Xq, whilst the majority cluster in the pericentromeric region. In addition, we confirm that there are at least two distinct MRX genes near the centromere as delineated by the non‐overlapping regional localizations of MRX17 and MRX18. Determination of these non‐overlapping localizations is currently the only means of classifying non‐syndromal forms of mental retardation and determining the minimum number of MRX loci. © 1994 Wiley‐Liss, Inc.