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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in FAM111b cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis
American Journal of Human Genetics, Volume 93, No. 6, Year 2013
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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 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. © 2013 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3853004/bin/mmc1.pdf
Authors & Co-Authors
Mercier, Sandra
France, Nantes
Chu de Nantes
France, Nantes
Nantes Université
Küry, Sébastien
France, Nantes
Chu de Nantes
Shaboodien, G.
South Africa, Observatory
Groote Schuur Hospital
Houniet, Darren T.
United Kingdom, Newcastle
University of Newcastle Upon Tyne, Faculty of Medical Sciences
Khumalo, N. P.
South Africa, Observatory
Groote Schuur Hospital
Bou-Hanna, Chantal
France, Nantes
Nantes Université
Bodak, Nathalie
France, Paris
Hôpital Necker Enfants Malades
Cormier-Dairé, Valeŕie
France, Paris
Ap-hp Assistance Publique - Hopitaux de Paris
David, Albert
France, Nantes
Chu de Nantes
Faivre, Laurence Olivier
France, Dijon
Université de Bourgogne
France, Dijon
Centre Hospitalier Universitaire Dijon Bourgogne
Figarella-Branger, Dominique
France, Marseille
Hopital la Timone
Ghérardi, Rhomain Kroum
France, Creteil
Hôpital Henri Mondor
Glen, Elise
United Kingdom, Newcastle
University of Newcastle Upon Tyne, Faculty of Medical Sciences
Hamel, Antoine
France, Nantes
Chu de Nantes
Laboisse, Christian
France, Paris
Hôpital Necker Enfants Malades
France, Nantes
Nantes Université
Le Caignec, Cédric
France, Nantes
Chu de Nantes
Lindenbaum, Pierre
France, Nantes
Nantes Université
France, Nantes
Chu de Nantes
Magot, Armelle
France, Nantes
Chu de Nantes
Münnich, Arnold
France, Dijon
Université de Bourgogne
Mussini, Jean Marie
France, Nantes
Chu de Nantes
Pillay, Komala
South Africa, Cape Town
University of Cape Town
Rahman, Thahira J.
United Kingdom, Newcastle
University of Newcastle Upon Tyne, Faculty of Medical Sciences
Redon, Richard
France, Nantes
Nantes Université
France, Nantes
Chu de Nantes
Salort-Campana, Emmanuelle
France, Marseille
Hopital la Timone
Santibanez-Koref, Mauro
United Kingdom, Newcastle
University of Newcastle Upon Tyne, Faculty of Medical Sciences
Thauvin, Christel
France, Dijon
Université de Bourgogne
France, Marseille
Hopital la Timone
Barbarot, Sébastien
France, Nantes
Clinique Dermatologique Nantes
Keavney, Bernard D.
United Kingdom, Newcastle
University of Newcastle Upon Tyne, Faculty of Medical Sciences
United Kingdom, Manchester
The University of Manchester
Bézieau, Stéphane
France, Nantes
Chu de Nantes
France, Nantes
Nantes Université
Mayosi, Bongani M.
South Africa, Observatory
Groote Schuur Hospital
Statistics
Citations: 81
Authors: 30
Affiliations: 13
Identifiers
Doi:
10.1016/j.ajhg.2013.10.013
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Genetics And Genomics