ArticleTranslational pediatrics2021
A novel missense mutation in
Article in Translational pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- [Phenotypic and pathogenic variant analysis of an X-linked dominant inherited non-syndromic hearing loss pedigree].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Differentiation and functioning of the lateral line organ in zebrafish require Smpx activity.Scientific reports · 2024Article
- Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions.Acta neuropathologica · 2021Article
- Inner Ear and Muscle Developmental Defects in Smpx-Deficient Zebrafish Embryos.International journal of molecular sciences · 2021Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked deafness-4 (DFNX4) caused by the functional loss of the
methodsWhole-exome sequencing (WES) and co-segregation analysis were used to identify the pathogenic variants. Furthermore, methylation differences among the androgen receptor genes were utilized to investigate whether the severe phenotype of the proband is related to X-chromosome inactivation (Xi).
resultsWe described in detail the clinical characteristics of the family and identified a novel missense mutation (c.262C>G: p.Gln88Glu) in
conclusionsThis is the first study to report a missense mutation of
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.