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

Fiche publication


Date publication

octobre 2015

Journal

Orphanet journal of rare diseases

Auteurs

Membres identifiés du Cancéropôle Est :
Pr FAIVRE Laurence, Pr THAUVIN-ROBINET Christel


Tous les auteurs :
Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S

Résumé

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 specific features of POIKTMP through a larger series of patients.

Mots clés

Adolescent, Adult, Amino Acid Sequence, Cell Cycle Proteins, genetics, Child, Child, Preschool, Contracture, complications, Female, Humans, Infant, Male, Middle Aged, Molecular Sequence Data, Muscular Diseases, complications, Mutation, genetics, Pulmonary Fibrosis, complications, Sclerosis, complications, Skin Abnormalities, complications, Skin Diseases, Genetic, complications, Tendons, pathology

Référence

Orphanet J Rare Dis. 2015 Oct 15;10:135