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Article

"Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters".

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 20 Jul 2026

Besnek Mücahid, Aynekin Büşra, Güleç Ayten, Efthymiou Stephanie, Per Hüseyin

Abstract excerpt

OBJECTIVE: This study aims to present the clinical and genetic findings of two siblings carrying a homozygous c.470_471del (p.Leu157ArgfsTer4) frameshift mutation in the METTL23 gene, and to compare their phenotypes with previously reported cases. MATERIALS AND METHODS: Two female siblings from a consanguineous family were clinically assessed. Developmental history, dysmorphic features, neurological examination,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42472761
DOI: 10.1007/s10072-026-09245-4

Genes

METTL23

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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