{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Mercier S"],"funding":["British Heart Foundation"],"pagination":["1100-7"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3853004"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["93(6)"],"pubmed_abstract":["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 ethn"],"journal":["American journal of human genetics"],"pubmed_title":["Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis."],"pmcid":["PMC3853004"],"funding_grant_id":["RG/08/012/25941"],"pubmed_authors":["Le Caignec C","Houniet DT","Faivre L","Gherardi RK","Hamel A","Pillay K","Keavney B","Redon R","Shaboodien G","Bou-Hanna C","Mercier S","Glen E","Bodak N","Magot A","Barbarot S","Figarella-Branger D","Lindenbaum P","Mayosi BM","Cormier-Daire V","Kury S","Bezieau S","David A","Santibanez-Koref M","Munnich A","Thauvin C","Rahman T","Laboisse C","Mussini JM","Salort-Campana E","Khumalo NP"],"additional_accession":[]},"is_claimable":false,"name":"Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.","description":"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 ethn","dates":{"release":"2013-01-01T00:00:00Z","publication":"2013 Dec","modification":"2026-05-04T13:21:33.867Z","creation":"2026-04-07T20:32:58.864Z"},"accession":"S-EPMC3853004","cross_references":{"pubmed":["24268661"],"doi":["10.1016/j.ajhg.2013.10.013"]}}