MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

doi:10.1136/jmedgenet-2018-105623

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Article

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).

Journal of medical genetics - 1 May 2019

Rad Abolfazl, Altunoglu Umut, Miller Rebecca, Maroofian Reza, James Kiely N, Çağlayan Ahmet Okay, Najafi Maryam, Stanley Valentina, Boustany Rose-Mary, Yeşil Gözde, Sahebzamani Afsaneh, Ercan-Sencicek Gülhan, Saeidi Kolsoum, Wu Kaman, Bauer Peter, Bakey Zeineb, Gleeson Joseph G, Hauser Natalie, Gunel Murat, Kayserili Hulya, Schmidts Miriam

Abstract excerpt

BACKGROUND: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic development including the eye, midbrain, neural tube and reproductive organs. OBJECTIVE: A homozygous truncating...

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Identifiers

PMID: 30487245
DOI: 10.1136/jmedgenet-2018-105623
PMCID: PMC6581149

Genes

MAB21L1

Variants

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