Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

doi:10.1007/s00439-012-1197-8

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Article

Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Human genetics - 1 Nov 2012

Fischer Björn, Dimopoulou Aikaterini, Egerer Johannes, Gardeitchik Thatjana, Kidd Alexa, Jost Dominik, Kayserili Hülya, Alanay Yasemin, Tantcheva-Poor Iliana, Mangold Elisabeth, Daumer-Haas Cornelia, Phadke Shubha, Peirano Reto I, Heusel Julia, Desphande Charu, Gupta Neerja, Nanda Arti, Felix Emma, Berry-Kravis Elisabeth, Kabra Madhulika, Wevers Ron A, van Maldergem Lionel, Mundlos Stefan, Morava Eva, Kornak Uwe

Abstract excerpt

Autosomal recessive cutis laxa (ARCL) syndromes are phenotypically overlapping, but genetically heterogeneous disorders. Mutations in the ATP6V0A2 gene were found to underlie both, autosomal recessive cutis laxa type 2 (ARCL2), Debré type, and wrinkly skin syndrome (WSS). The ATP6V0A2 gene encodes the a2 subunit of the V-type H(+)-ATPase, playing a role in proton translocation, and possibly also in membrane...

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PMID: 22773132
DOI: 10.1007/s00439-012-1197-8

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