Article
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Orphanet journal of rare diseases - 15 Oct 2015
Mercier Sandra, Küry Sébastien, Salort-Campana Emmanuelle, Magot Armelle, Agbim Uchenna, Besnard Thomas, Bodak Nathalie, Bou-Hanna Chantal, Bréhéret Flora, Brunelle Perrine, Caillon Florence, Chabrol Brigitte, Cormier-Daire Valérie, David Albert, Eymard Bruno, Faivre Laurence, Figarella-Branger Dominique, Fleurence Emmanuelle, Ganapathi Mythily, Gherardi Romain, Goldenberg Alice, Hamel Antoine, Igual Jeanine, Irvine Alan D, Israël-Biet Dominique, Kannengiesser Caroline, Laboisse Christian, Le Caignec Cédric, Mahé Jean-Yves, Mallet Stéphanie, MacGowan Stuart, McAleer Maeve A, McLean Irwin, Méni Cécile, Munnich Arnold, Mussini Jean-Marie, Nagy Peter L, Odel Jeffrey, O'Regan Grainne M, Péréon Yann, Perrier Julie, Piard Juliette, Puzenat Eve, Sampson Jacinda B, Smith Frances, Soufir Nadem, Tanji Kurenai, Thauvin Christel, Ulane Christina, Watson Rosemarie M, Khumalo Nonhlanhla P, Mayosi Bongani M, Barbarot Sébastien, Bézieau Stéphane
Abstract excerpt
BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the...
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