Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

doi:10.1016/j.ajhg.2013.10.013

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Article

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

American journal of human genetics - 5 Dec 2013

Mercier Sandra, Küry Sébastien, Shaboodien Gasnat, Houniet Darren T, Khumalo Nonhlanhla P, Bou-Hanna Chantal, Bodak Nathalie, Cormier-Daire Valérie, David Albert, Faivre Laurence, Figarella-Branger Dominique, Gherardi Romain K, Glen Elise, Hamel Antoine, Laboisse Christian, Le Caignec Cédric, Lindenbaum Pierre, Magot Armelle, Munnich Arnold, Mussini Jean-Marie, Pillay Komala, Rahman Thahira, Redon Richard, Salort-Campana Emmanuelle, Santibanez-Koref Mauro, Thauvin Christel, Barbarot Sébastien, Keavney Bernard, Bézieau Stéphane, Mayosi Bongani M

Abstract excerpt

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...

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PMID: 24268661
DOI: 10.1016/j.ajhg.2013.10.013
PMCID: PMC3853004

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Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.PMID 24268661Read ↗

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.Semantic proximity Read ↗

Family of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis caused by a novel FAM 111B mutationSemantic proximity Read ↗

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An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis-Associated Pathway in the POIKTMP Syndrome.Semantic proximity Read ↗

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Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.Semantic proximity Read ↗

[Hereditary fibrosing poikiloderma with contractures, myopathy and pulmonary fibrosis: The role of mutations in FAM111B].Semantic proximity Read ↗

Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.Semantic proximity Read ↗

FAM111B dysregulation promotes malignancy in fibrosarcoma and POIKTMP and a low-cost method for its mutation screening.Semantic proximity Read ↗

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