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A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents |
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Published in | Genetics in medicine. 2010, vol. 12, no. 7, p. 431-439 | |
Abstract | PURPOSE: Nail-Patella syndrome (MIM 161200) is a rare autosomal dominant disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, and iliac horn. In 40% of cases, a glomerular defect is present and, less frequently, ocular damage is observed. Inter- and intrafamilial variable expressivity of the clinical phenotype is a common finding. Mutations in the human LMX1B gene have been demonstrated to be responsible for Nail-Patella syndrome in around 80% of cases. METHODS: Standard polymerase chain reaction and sequencing methods were used for mutation and single nucleotide polymorphism identification and control of cloned sequences. Array-CGH (Agilent, 244A Kit) was used for detection of deletions. Standard cloning techniques and the Snapshot method were used for analysis of mosaicism. RESULTS: In this study, we present the results of LMX1B screening of 20 Nail-Patella syndrome patients. The molecular defect was found in 17 patients. We report five novel mutations and a approximately 2 Mb deletion in chromosome 9q encompassing the entire LMX1B gene in a patient with a complex phenotype. We present evidence of somatic mosaicism in unaffected parents in two cases, which, to our knowledge, are the first reported cases of inheritance of a mutated LMX1B allele in Nail-Patella syndrome patients from a mosaic parent. CONCLUSION: The study of the described case series provides some original observations in an "old" genetic disorder. | |
Keywords | Child — *Chromosome Deletion — Chromosomes, Human, Pair 9/genetics — Comparative Genomic Hybridization — Female — Homeodomain Proteins/*genetics — Humans — LIM-Homeodomain Proteins — Male — *Mosaicism — Nail-Patella Syndrome/*genetics — Oligonucleotide Array Sequence Analysis — Parents — Pedigree — Point Mutation/*genetics — Polymerase Chain Reaction — Polymorphism, Single Nucleotide — Prognosis — Transcription Factors/*genetics | |
Identifiers | PMID: 20531206 | |
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Research group | Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248) | |
Citation (ISO format) | MARINI, Monica et al. A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents. In: Genetics in medicine, 2010, vol. 12, n° 7, p. 431-439. doi: 10.1097/GIM.0b013e3181e21afa https://archive-ouverte.unige.ch/unige:21111 |