A Novel Mutation in MYO18B Gene Accompanied By Sensory Neuropathy-Reference-Cited by-同舟云学术

A Novel Mutation in MYO18B Gene Accompanied By Sensory Neuropathy

Published:2023-05-15 Issue: Volume: Page:
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Author:

Eroğlu Arzu¹,Çaksen Hüseyin²,Topçu Meral³

Affiliation:

1. Balikesir Atatürk City Hospital, Department of Pediatrics, Division of Pediatric Neurology, Balıkesir,

2. Necmettin Erbakan University Meram Medical Faculty, Department of Pediatrics, Divisions of Pediatric Neurology and Genetics and Behavioral-Developmental Pediatrics, Konya

3. Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Ankara

Abstract

Abstract Different genetic heterogeneity of Klippel–FeilSyndromevariants has been identified. One of those variants is Klippel–Feil Syndrome 4 (KFS+; MIM #616549), which is caused by the mutation in the MYO18B gene of the autosomal recessively inherited 22q12 chromosome. About 10 relevant cases have been identified in the literature. As genetic research gains popularity, it is likely that variants will emerge as well. In this sense, we introduce a case characterized by the identification of a recent homozygous missense mutation [c.2147G > A (p.R716Q)] in the MYO18B gene accompanied by Sensory Neuropathy.

Publisher

Research Square Platform LLC

Reference7 articles.

1. The mutational burden and oligogenic inheritance in Klippel-Feil syndrome;Li Z;BMC Musculoskeletal Disord

2. A novel pathogenic variant in MYO18B associating early onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions;Brunet T;Gene,2020

3. Further delineation of MYO18B-related autosomal recessive Klippel–Feilsyndrome with myopathy and facial dysmorphism;Altuame FD;Am J Med Genet

4. Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient;Mihaylova V;Neurol Genet,2020

5. Expanding the clinical history associated with syndromic Klippel–Feil: A unique case of comorbidity with medulloblastoma;Schieffer KM;Eur J Med Genet,2019