期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 93, 期 6, 页码 1100-1107出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2013.10.013
关键词
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资金
- South African Medical Research Council
- National Research Foundation of South Africa
- Lily and Ernst Hausmann Research Trust
- British Heart Foundation Personal Chair
- British Heart Foundation [RG/08/012/25941] Funding Source: researchfish
Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All three mutations were absent from public databases and were not observed on Sanger sequencing of 388 ethnically matched control subjects. The three single-nucleotide mutations code for amino acid changes that are clustered within a putative trypsin-like cysteine/serine peptidase domain of FAM111B. These findings provide evidence of the involvement of FAM111B in congenital poikiloderma and multisystem fibrosis.
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