A Novel Splice Site Variant in Gene in Multiple Affected NEM8 Family Members Who Present Phenotypic Variability

Overview

Journal Mol Syndromol

Date 2025 Feb 6

PMID 39911178

Authors

Beria Sonmez

Mehmet Kocabey

Ayse Ipek Polat

Semra Gursoy

Pakize Karaoglu

Rita Horvath

Katherine R Schon

Ayfer Ulgenalp

Uluc Yis

Ahmet Okay Caglayan

Ozlem Giray Bozkaya

Affiliations

Soon will be listed here.

Abstract

Introduction: Nemaline myopathy (NEM) is a heterogeneous muscle disease, which usually presents with hypotonia and muscle weakness. Biallelic pathogenic variants of gene cause severe form of NEM (NEM8), which leads to a wide range of symptoms, including hypotonia, muscle weakness, joint contractures and fractures. Nemaline bodies in muscle fiber are characteristic findings of the disease.

Case Presentation: Here, we presented three affected individuals in a family with variable phenotypes, in whom the same novel splice-site variant in gene (c.1607+3A>T) was detected.

Discussion: This study expanded the spectrum of genotype and phenotype of NEM8, and emphasized that molecular genetic tests are highly valuable in diagnosis of patients with inconclusive muscle biopsy results.

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