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Am J Hum Genet ; 90(3): 494-501, 2012 Mar 09.
Article in English | MEDLINE | ID: mdl-22387013

ABSTRACT

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simplex cases of MCTO, we identified previously unreported missense mutations clustering within a 51 base pair region of the single exon of MAFB, validated by Sanger sequencing. A further six unrelated simplex cases with MCTO were also heterozygous for previously unreported mutations within this same region, as were affected members of two families with autosomal-dominant MCTO. MAFB encodes a transcription factor that negatively regulates RANKL-induced osteoclastogenesis and is essential for normal renal development. Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development.


Subject(s)
Carpal Bones/abnormalities , Hajdu-Cheney Syndrome/genetics , MafB Transcription Factor/genetics , Mutation, Missense , Tarsal Bones/abnormalities , Transcriptional Activation , Base Sequence , Child , Child, Preschool , Cluster Analysis , Exome , Exons , Female , Heterozygote , Humans , Male , Molecular Sequence Data , Polymorphism, Single Nucleotide , Protein Structure, Tertiary , Sequence Analysis, DNA/methods
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