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Wayseen Wang - One of the best experts on this subject based on the ideXlab platform.
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a 24 2 mb deletion of 4q12 q21 21 characterized by array cgh in a 131 2 year old girl with short stature mental retardation developmental delay hyperopia exotropia enamel defects delayed tooth eruption and delayed puberty
Genetic Counseling, 2011Co-Authors: Chihping Chen, Shuanpei Lin, S R Chern, Fuu Jen Tsai, Li Feng Chen, Wayseen WangAbstract:We report molecular and cytogenetic characterization of proximal deletion of Chromosome 4q, del(4)(q12 --> q21.21) in a 131/2-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.
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a 24 2 mb deletion of 4q12 q21 21 characterized by array cgh in a 131 2 year old girl with short stature mental retardation developmental delay hyperopia exotropia enamel defects delayed tooth eruption and delayed puberty
Genetic Counseling, 2011Co-Authors: Chihping Chen, Shuanpei Lin, S R Chern, Fuu Jen Tsai, Li Feng Chen, Wayseen WangAbstract:Summary: A 24.2-Mb deletion of 4q12→q21.21 characterized by array CGH in a 13½-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty: We report molecular and cytogenetic characterization of proximal deletion of Chromosome 4q, del(4)(q12→q21.21) in a 13½-year-old girl with short stature, mental retardation, developmental delay, hyperopia, exotropia, enamel defects, delayed tooth eruption and delayed puberty. We speculate that haploinsufficiency of the AMTN, ENAM and AMBN genes is most likely responsible for dental disorders, haploinsufficiency of the BMP2K genes is most likely responsible for ocular disorders, and haploinsufficiency of the EREG, AREG and BTC genes is most likely responsible for delayed puberty in this patient.
Gosta Holmgren - One of the best experts on this subject based on the ideXlab platform.
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a nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta aih2
Human Molecular Genetics, 2002Co-Authors: Carina Karrman Mardh, Birgitta Backman, Gosta Holmgren, Jan C C Hu, James P. Simmer, Kristina ForsmansembAbstract:: Amelogenesis imperfecta (AI) is an inherited tooth disorder affecting tooth enamel formation only. A gene for autosomal dominant AI, the local hypoplastic form, has been localized to a 4 Mb region on Chromosome 4q (AIH2). The enamelin gene (ENAM ), has been mapped to Chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in patients with smooth and thin hypoplastic autosomal dominant AI (ADAI). In this study, we describe an ENAM mutation causing the local hypoplastic form of ADAI, a phenotype that accounts for 27% of the autosomally inherited cases in Northern Sweden. This nonsense mutation in the enamelin gene results in a truncated peptide of 52 amino acids as compared with 1142 amino acids of the normal protein. Our results show that while a splice site mutation is associated with smooth and thin hypoplastic AI, a base substitution resulting in a shorter peptide causes local hypoplasia of the enamel, a milder form of AI. These findings support ENAM as a disease gene, and shed new light on the molecular mechanism of the disease and to the function of the enamelin protein in enamel formation.
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genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the aih2 region on human Chromosome 4q
Archives of Oral Biology, 1996Co-Authors: Carina Karrman, Birgitta Backman, Gosta Holmgren, Kristina ForsmanAbstract:Abstract Amelogenesis imperfecta (AI) is a group of hereditary enamel defects, characterized by large clinical diversity. On the basis of differences in clinical manifestation and inheritance pattern, 14 different subtypes have been recognized. A locus for autosomal dominant AI (ADAI) of local hypoplastic type was recently mapped to the region between D4S392 and D4S395 on the long arm of Chromosome 4. To test whether the Chromosome 4 locus is responsible for other forms of AI as well, as linkage study was carried out with 17 families representing at least five clinical forms of ADAI. Admixture tests for heterogeneity performed with the marker D4S2456 gave statistical support for genetic heterogeneity of ADAI with the odds 78:1. Linkage to the ADAI locus on Chromosome 4q ( AIH2 ) could only be demonstrated with families expressing the local hypoplastic type, and there was no support for heterogeneity within that group of families. Furthermore, linkage could be excluded for five families with other clinical forms of ADAI. The data therefore demonstrated that ADAI is genetically heterogeneous, and that at least two loci for it exist.
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localization of a gene for autosomal dominant amelogenesis imperfecta adai to Chromosome 4q
Human Molecular Genetics, 1994Co-Authors: Kristina Forsman, Birgitta Backman, Lisbet K Lind, Eleonora Westermark, Gosta HolmgrenAbstract:Amelogenesis imperfecta (AI), a disorder affecting the formation of enamel, is significantly more common in Northern Sweden than in other parts of the world. The disease is genetically and clinically heterogenous, and autosomal dominant, autosomal recessive and X-linked inheritance patterns have been recognized. Linkage analysis has identified two different loci for X-linked AI, one of which is identical to the gene encoding the enamel protein amelogenin. However, in families with an autosomal inheritance pattern for AI, the genetic basis of the disease still remains unknown. We report a linkage analysis study performed on three Swedish families where the affected members had an autosomal dominant variant of AI (ADAI) clinically characterized as local hypoplastic. Significant linkage to microsatellite markers on Chromosome 4q were obtained, with a maximum lod score of 5.55 for the marker D4S428. Recombinations in the family localized the ADAI locus to the interval between D4S392 and D4S395. This Chromosome region contains both a locus for the dental disorder dentinogenesis imperfecta and the albumin gene. Serum albumin has been suggested to play a role in enamel formation, and the albumin gene is therefore a candidate gene for this genetic disease.
F Moreno - One of the best experts on this subject based on the ideXlab platform.
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dinucleotide repeat polymorphism at the d4s2458 locus close to the pkd2 locus on human Chromosome 4q
Human Genetics, 1995Co-Authors: M Viribay, F Moreno, D Telleria, Eladio Velasco, J San L MillanAbstract:A new polymorphic CA repeat sequence was identified within the candidate region for the autosomal dominant polycystic kidney disease-type 2 (PKD2) locus. It should be a useful marker in the localization of this gene.
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refining the localization of the pkd2 locus on Chromosome 4q by linkage analysis in spanish families with autosomal dominant polycystic kidney disease type 2
American Journal of Human Genetics, 1995Co-Authors: J San L Millan, M Viribay, Belen Peral, I Martinez, Jean Weissenbach, F MorenoAbstract:Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. At least two distinct forms of ADPKD are now well defined. In approximately 86% of affected European families, a gene defect localized to 16p13.3 was responsible for ADPKD, while a second locus has been recently localized to 4q13-q23 as candidate for the disease in the remaining families. We present confirmation of linkage to microsatellite markers on Chromosome 4q in eight Spanish families with ADPKD, in which the disease was not linked to 16p13.3. By linkage analysis with marker D4S423, a maximum lod score of 9.03 at a recombination fraction of .00 was obtained. Multipoint linkage analysis, as well as a study of recombinant haplotypes, placed the PKD2 locus between D4S1542 and D4S1563, thereby defining a genetic interval of approximately 1 cM. The refined map will serve as a genetic framework for additional genetic and physical mapping of the region and will improve the accuracy of presymptomatic diagnosis of PKD2.
J San L Millan - One of the best experts on this subject based on the ideXlab platform.
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dinucleotide repeat polymorphism at the d4s2458 locus close to the pkd2 locus on human Chromosome 4q
Human Genetics, 1995Co-Authors: M Viribay, F Moreno, D Telleria, Eladio Velasco, J San L MillanAbstract:A new polymorphic CA repeat sequence was identified within the candidate region for the autosomal dominant polycystic kidney disease-type 2 (PKD2) locus. It should be a useful marker in the localization of this gene.
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refining the localization of the pkd2 locus on Chromosome 4q by linkage analysis in spanish families with autosomal dominant polycystic kidney disease type 2
American Journal of Human Genetics, 1995Co-Authors: J San L Millan, M Viribay, Belen Peral, I Martinez, Jean Weissenbach, F MorenoAbstract:Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. At least two distinct forms of ADPKD are now well defined. In approximately 86% of affected European families, a gene defect localized to 16p13.3 was responsible for ADPKD, while a second locus has been recently localized to 4q13-q23 as candidate for the disease in the remaining families. We present confirmation of linkage to microsatellite markers on Chromosome 4q in eight Spanish families with ADPKD, in which the disease was not linked to 16p13.3. By linkage analysis with marker D4S423, a maximum lod score of 9.03 at a recombination fraction of .00 was obtained. Multipoint linkage analysis, as well as a study of recombinant haplotypes, placed the PKD2 locus between D4S1542 and D4S1563, thereby defining a genetic interval of approximately 1 cM. The refined map will serve as a genetic framework for additional genetic and physical mapping of the region and will improve the accuracy of presymptomatic diagnosis of PKD2.
Xiao Pingyang - One of the best experts on this subject based on the ideXlab platform.
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abetalipoproteinemia caused by maternal isodisomy of Chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene
Arteriosclerosis Thrombosis and Vascular Biology, 1999Co-Authors: Xiao PingyangAbstract:Abstract—Uniparental disomy (UPD), a rare inheritance of 2 copies of a single Chromosome homolog or a region of a Chromosome from one parent, can result in various autosomal recessive diseases. Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal triglyceride transfer protein (MTP) deficiency. In this study, we describe a patient with ABL inherited as a homozygous intron 9 splice acceptor G(−1)-to-A mutation of the transfer protein gene. This mutation alters the splicing of the mRNA, resulting in a 36 amino acids, in-frame deletion of sequence encoded by exon 10. We analyzed Chromosome 4, including MTP gene (4q22-24), using short tandem repeat markers. The proband has only his mother’s genes in Chromosome 4q spanning a 150-centimorgan region; ie, segmental maternal isodisomy 4q21-35, probably due to mitotic recombination. Nonpaternity between the proband and his father was excluded using 6 polymorphic markers from different Chromosomes ...