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- PMID: 21415077
- UKPMCID: 21415077
- DOI: 10.1136/jmg.2010.087544
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Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali, Slimane; Le Goff, Carine; Pressac-Diebold, Isabelle; Pfennig, Gwendoline; Mahaut, Clémentine; Dagoneau, Nathalie; Alanay, Yasemin; Brady, Angela F; Crow, Yanick J; Devriendt, Koen; 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
Journal of medical genetics. 2011;.
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Full-text held externally
- PMID: 21415077
- UKPMCID: 21415077
- DOI: 10.1136/jmg.2010.087544
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.
Bibliographic metadata
- Allali, Slimane
- Le Goff, Carine
- Pressac-Diebold, Isabelle
- Pfennig, Gwendoline
- Mahaut, Clémentine
- Dagoneau, Nathalie
- Alanay, Yasemin
- Brady, Angela F
- Crow, Yanick J
- Devriendt, Koen
- 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