Title: Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
Authors: Allali, Slimane ×
Le Goff, Carine
Pressac-Diebold, Isabelle
Pfennig, Gwendoline
Mahaut, Clémentine
Dagoneau, Nathalie
Alanay, Yasemin
Brady, Angela F
Crow, Yanick J
Devriendt, Koenraad
Drouin-Garraud, Valérie
Flori, Elisabeth
Geneviève, David
Hennekam, Raoul C
Hurst, Jane
Krakow, Deborah
Le Merrer, Martine
Lichtenbelt, Klaske D
Lynch, Sally A
Lyonnet, Stanislas
Macdermot, Kay
Mansour, Sahar
Megarbané, André
Santos, Heloisa G
Splitt, Miranda
Superti-Furga, Andrea
Unger, Sheila
Williams, Denise
Munnich, Arnold
Cormier-Daire, Valérie #
Issue Date: Mar-2011
Publisher: BMJ Publishing Group
Series Title: Journal of Medical Genetics vol:48 issue:6 pages:417-421
Abstract: Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early death. In a previous study including six GD families, we have mapped the disease gene on chromosome 9q34.2 and identified mutations in the A Disintegrin And Metalloproteinase with Thrombospondin repeats-like 2 gene (ADAMTSL2). Methods Following this study, we have collected the samples of 30 additional GD families, including 33 patients and identified ADAMTSL2 mutations in 14/33 patients, comprising 13 novel mutations. The absence of mutation in 19 patients prompted us to compare the two groups of GD patients, namely group 1, patients with ADAMTSL2 mutations (n=20, also including the 6 patients from our previous study), and group 2, patients without ADAMTSL2 mutations (n=19). Results The main discriminating features were facial dysmorphism and tip-toe walking, which were almost constantly observed in group 1. No differences were found concerning heart involvement, skin thickness, recurrent respiratory and ear infections, bronchopulmonary insufficiency, laryngo-tracheal stenosis, deafness, and radiographic features. Conclusions It is concluded that GD is a genetically heterogeneous condition. Ongoing studies will hopefully lead to the identification of another disease gene.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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