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Lookup NU author(s): Darren Houniet, Dr Thahira Rahman, Dr Mauro Santibanez Koref, Professor Bernard Keavney
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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.
Author(s): Mercier S, Kury S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bezieau S, Mayosi BM
Publication type: Article
Publication status: Published
Journal: American Journal of Human Genetics
Year: 2013
Volume: 93
Issue: 6
Pages: 1100-1107
Print publication date: 21/11/2013
ISSN (print): 0002-9297
ISSN (electronic): 1537-6605
Publisher: Cell Press
URL: http://dx.doi.org/10.1016/j.ajhg.2013.10.013
DOI: 10.1016/j.ajhg.2013.10.013
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