Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

doi:10.1007/s00439-024-02657-2

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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies.

Human genetics - 1 Mar 2024

Brooks Daniel, Burke Elizabeth, Lee Sukyeong, Eble Tanya N, O'Leary Melanie, Osei-Owusu Ikeoluwa, Rehm Heidi L, Dhar Shweta U, Emrick Lisa, Bick David, Nehrebecky Michelle, Macnamara Ellen, Casas-Alba Dídac, Armstrong Judith, Prat Carolina, Martínez-Monseny Antonio F, Palau Francesc, Liu Pengfei, Adams David, Lalani Seema, Rosenfeld Jill A, Burrage Lindsay C

Abstract excerpt

Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy. However, heterozygous variants in this gene have not been definitively associated with a phenotype. Here, we describe the phenotypic spectrum associated with heterozygous de novo variants in the linker...

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Identifiers

PMID: 38451290
DOI: 10.1007/s00439-024-02657-2
PMCID: PMC11191325

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