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Article

Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.

European journal of human genetics : EJHG - 1 Apr 2024

Dong Shuqian, Zou Tongdan, Zhen Fangyuan, Wang Ting, Zhou Yongwei, Wu Jiahui, Nagata Tatsuo, Matsushita Itsuka, Gong Bo, Kondo Hiroyuki, Li Qiuming, Zhang Houbin

Abstract excerpt

Congenital acorea is a rare disease with the absence of a pupil in the eye. To date, only one family and two isolated cases with congenital acorea have been reported. The gene associated with acorea has not been identified. In this study, we recruited a Chinese family acorea-microphthalmia-cataract syndrome. By analyzing the whole-exome sequencing (WES) data of this Chinese family, we revealed the association of...

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Identifiers

PMID: 38052906
DOI: 10.1038/s41431-023-01503-9
PMCID: PMC10999424

Genes

GJA8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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