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Article

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.

Scientific reports - 31 Aug 2017

Lee So-Hyun, Nam Tai-Seung, Li Wenting, Kim Jung Ha, Yoon Woong, Choi Yoo-Duk, Kim Kun-Hee, Cai Hua, Kim Min Jung, Kim Changsoo, Choy Hyon E, Kim Nacksung, Chay Kee Oh, Kim Myeong-Kyu, Choi Seok-Yong

Abstract excerpt

COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Although mutations in TMEM67 (transmembrane protein 67)/MKS3 (Meckel-Gruber syndrome, type 3) were reported to cause COACH syndrome, this causality has not verified by functional studies. In a...

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Identifiers

PMID: 28860541
DOI: 10.1038/s41598-017-10652-z
PMCID: PMC5579020

Genes

TMEM67

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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