Article
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.
Journal of medical genetics - 1 Mar 2014
Esmailpour Taraneh, Riazifar Hamidreza, Liu Linan, Donkervoort Sandra, Huang Vincent H, Madaan Shreshtha, Shoucri Bassem M, Busch Anke, Wu Jie, Towbin Alexander, Chadwick Robert B, Sequeira Adolfo, Vawter Marquis P, Sun Guoli, Johnston Jennifer J, Biesecker Leslie G, Kawaguchi Riki, Sun Hui, Kimonis Virginia, Huang Taosheng
Abstract excerpt
INTRODUCTION: Lenz microphthalmia syndrome (LMS) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, skeletal abnormalities, genitourinary malformations, and anomalies of the digits, ears, and teeth. Intellectual disability and seizure disorders are seen in about 60% of affected males. To date, no gene has been identified for LMS in the microphthalmia syndrome 1 locus...
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