Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.
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ABSTRACT:
SUBMITTER: Delahanty RJ
PROVIDER: S-EPMC5240804 | biostudies-literature | 2016 Dec
REPOSITORIES: biostudies-literature
Publications
Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.
Delahanty Ryan J RJ Zhang Yanfeng Y Bichell Terry Jo TJ Shen Wangzhen W Verdier Kelienne K Macdonald Robert L RL Xu Lili L Boyd Kelli K Williams Janice J Kang Jing-Qiong JQ
Cell reports 20161201 12
Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and is long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2. Mutations in GABRB3 have frequently been associated with epilepsy and autism, consistent with its role in neurodevelopment. We report here a robust phenotype in the mouse in which deletion of Gabrb3 alone causes nearly complete loss of retinal pigmentation due to atro ...[more]
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