MOLECULAR SCREENING OF ADAMTSL2 GENE IN 33 PATIENTS REVEALS THE GENETIC HETEROGENEITY OF GELEOPHYSIC DYSPLASIA - HAL Accéder directement au contenu
Article dans une revue Journal of Medical Genetics Année : 2011

MOLECULAR SCREENING OF ADAMTSL2 GENE IN 33 PATIENTS REVEALS THE GENETIC HETEROGENEITY OF GELEOPHYSIC DYSPLASIA

Deborah Krakow
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K. D. Lichtenbelt
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Miranda Splitt
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Résumé

Geleophysic dysplasia (OMIM 231050, GD) is an autosomal recessive disorder characterized 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). 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). We found that the main discriminating features were facial dysmorphism and tip-toe walking, 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. We conclude that GD is a genetically heterogeneous condition. Ongoing studies will hopefully lead to the identification of another disease gene.
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hal-00614843, version 1 (17-08-2011)

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Slimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, Gwendolyne Pfenning, Clã©mentine Mahaut, et al.. MOLECULAR SCREENING OF ADAMTSL2 GENE IN 33 PATIENTS REVEALS THE GENETIC HETEROGENEITY OF GELEOPHYSIC DYSPLASIA. Journal of Medical Genetics, 2011, 48 (6), pp.417. ⟨10.1136/jmg.2010.087544⟩. ⟨hal-00614843⟩
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