ArticleAmerican journal of human genetics1997
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 89 citations in OpenAlex.
- Article
- Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous StatusDiagnostics (Basel, Switzerland) · 2022Article
- Homozygosity for a NovelInternational journal of molecular sciences · 2022Article
- Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn.Acta dermato-venereologica · 2020Article
- Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.Case reports in genetics · 2014Article
- Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.American journal of medical genetics. Part A · 2010Article
- Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.Journal of medical genetics · 2007Article
- Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.Molecular vision · 2007Article
- Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.Journal of medical genetics · 2006Article
- The ratio of maternal to paternal UPD associated with recessive diseases.Human genetics · 2005Article
- Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.Human genetics · 2004Review
- Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1.American journal of human genetics · 2004Article
- Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.Nature · 2003Article
- Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.American journal of human genetics · 2002Article
- Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.Journal of medical genetics · 1998Article
- Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.American journal of human genetics · 1998Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
Junctional epidermolysis bullosa (JEB) is an autosomal recessive disorder characterized by blister formation at the level of the lamina lucida within the cutaneous basement-membrane zone. Classic lethal JEB (Herlitz type [H-JEB]; OMIM 226700) is frequently associated with premature-termination-codon mutations in both alleles of one of the three genes (LAMA3, LAMC2, or LAMB3) encoding the subunit polypeptides (alpha3, beta3, and gamma2) of laminin 5. In this study, we describe a unique patient with H-JEB, who was homozygous for a nonsense mutation, Q243X, in the LAMB3 gene on chromosome 1 and who had normal karyotype 46,XY. The mother was found to be a carrier of the Q243X mutation, whereas the father had two normal LAMB3 alleles. Nonpaternity was excluded by use of 11 microsatellite markers from six different chromosomes. The use of 17 partly or fully informative microsatellite markers spanning the entire chromosome 1 revealed that the patient had both maternal uniparental meroisodisomy of a 35-cM region on 1q containing the maternal LAMB3 mutation and maternal uniparental heterodisomy of other regions of chromosome 1. Thus, the results suggested that reduction to homozygosity of the 1q region containing the maternal LAMB3 mutation caused the H-JEB phenotype. The patient was normally developed at term and did not show overt dysmorphisms or malformations. This is the first description of uniparental disomy of human chromosome 1.
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