Aug 2026· Journal of clinical laboratory analysis (Print)· Vol 40· 0 citations· 41 references
Medicine
TL;DR
A novel likely pathogenic variant in the LOXHD1 gene, c.3713dupA (p.Asp1238Glufs*10), was identified and enhances the comprehension of the genetic underpinnings of hearing loss and may aid in molecular diagnostics and genetic counseling for impacted families.
Abstract
Hearing loss is one of the most common sensory disorders caused by genetic and environmental factors. Autosomal recessive non‐syndromic hearing loss (ARNSHL) is extremely heterogeneous, with over 100 genes known to be involved. Hearing loss can result from mutations in the LOXHD1 gene, which codes a highly conserved protein known as lipoxygenase and is located at 18q21.1. Despite the association between LOXHD1 mutations and ARNSHL, there are still few documented cases.
A novel pathogenic variant in the ACTG1 gene responsible for NSHL is identified, which expands the mutational spectrum of ACTG1‐related hearing loss and provides intervention targets for gene therapy of HHL.
Ya-Jing Zhu, Tianyu Wang, Xiang-Lan Sun et al.· Journal of Neural Transplant...· 0 citations
Two novel compound heterozygous CDH23 mutations are identified in a thirteen-month-old girl with NSHL, expanding the known spectrum of CDH23 mutation and adding to the understanding of the genotype–phenotype correlations in NSHL.
Pengcheng Xu, Qi Liao, Yun Lin et al.· International Journal of Gen...· 0 citations
The predicted loss-of-function of SLITRK6 supports an important role for SLITRK6 in auditory and visual system development and is consistent with previously described SLITRK6-associated HL with myopia.
The particular phenotype that was observed in the patient is comparable to the ones that are described in the KCTD7 related pathologies, combined with segregation analysis indicating both parents carried the variant heterogeneously present is a strong indication that the identified mutation consists of probably pathoge...
S. Alharazy, Peter Natesan Pushparaj, Rose Jelani et al.· Pakistan Journal of Medical...· 0 citations
The co-occurrence of variants in AKAP4 and RNF220 may suggest an oligogenic etiology of NOA and contribute to the phenotypic variability associated with AKAP4 variants.
Razieh Ebrahimi Askari, A. Malcher, Fateme Sefid et al.· International Journal of Mol...· 0 citations
It is demonstrated that even in the absence of functional experiments, comprehensive family analysis can provide crucial clues for variant of uncertain significance (VUS) interpretation.
Xiu-Lan Hao, Yan-Chou Ye, Man Liu et al.· Frontiers in Genetics· 0 citations
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