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Article

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation.

Cell reports - 20 Dec 2016

Delahanty Ryan J, Zhang Yanfeng, Bichell Terry Jo, Shen Wangzhen, Verdier Kelienne, Macdonald Robert L, Xu Lili, Boyd Kelli, Williams Janice, Kang Jing-Qiong

Abstract excerpt

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...

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Source

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Identifiers

PMID: 28009282
DOI: 10.1016/j.celrep.2016.11.067
PMCID: PMC5240804

Genes

GABRB3
OCA2
GABRA5
GABRG3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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