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Article

Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Oct 2020

Liu Qiuyan, Wang Haiqiao, Zhao Jianhui, Liu Zhicui, Sun Dianrong, Yuan Aiyun, Luo Guangjin, Wei Wei, Hou Mei

Abstract excerpt

Joubert syndrome (JS) is a rare clinically and genetically heterogeneous disease. Using whole or targeted exome sequencing, we identified four novel compound heterozygous mutations in chromosome 5 open reading frame 42 gene (C5orf42), including c.2876C>T (missense mutation) and c.3921+1G>A (splicing mutation), c.2292 -2delA (splicing mutation) and c.4067C>T (missense mutation), c.6997_6998insT (frameshift...

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PMID: 32233090
DOI: 10.1002/jdn.10029

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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