Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus - Université de Rennes Accéder directement au contenu
Article Dans Une Revue European Journal of Human Genetics Année : 2011

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

Résumé

HOXD genes encode transcription factors involved in the antero-posterior patterning of the limb bud and in the specification of fingers. During the embryo development, HOXD genes are expressed following a spatio-temporal colinearity which involves at least 3 regions, centrometric and telomeric to this cluster. Here, we describe a father and a daughter presenting a 3-4 hand bilateral syndactyly associated with a nystagmus. Array-CGH showed a 3.8 Mb duplication at 2q31.1-q31.2 comprising 27 genes including the entire HOXD cluster. We performed expression studies in lymphoblasts by RT-PCR and observed a HOXD13 and HOXD10 overexpression whereas the HOXD12 expression was decreased. HOXD13 and HOXD10 overexpression associated with a misregulation of at least HOXD12 may therefore induce the syndactyly. Deletions of the HOXD cluster and its regulatory sequences induce hand malformations and particularly finger anomalies. Recently, smaller duplications of the same region have been reported in association with a mesomelic dysplasia, type Kantaputra. We discuss the variable phenotypes associated with such 2q duplications.
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Dates et versions

hal-00649446 , version 1 (08-12-2011)

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Jamal Ghoumid, Joris Andrieux, Bernard Sablonnière, Sylvie Odent, Nathalie Philippe, et al.. Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus. European Journal of Human Genetics, 2011, 19 (11), pp.1198-201. ⟨10.1038/ejhg.2011.95⟩. ⟨hal-00649446⟩
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