ArticleMolecular genetics & genomic medicine2019
Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 20 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
- Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.Orphanet journal of rare diseases · 2024Article
- Differentiation and functioning of the lateral line organ in zebrafish require Smpx activity.Scientific reports · 2024Article
- A Global Multiregional Proteomic Map of the Human Cerebral Cortex.Genomics, proteomics & bioinformatics · 2022Article
- Molecular Profiling of DNA Methylation and Alternative Splicing of Genes in Skeletal Muscle of Obese Rabbits.Current issues in molecular biology · 2021Article
- 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
- A novel missense mutation inTranslational pediatrics · 2021Article
- A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.Human molecular genetics · 2020Article
- Whole-exome sequencing identifies a donor splice-site variant in SMPX that causes rare X-linked congenital deafness.Molecular genetics & genomic medicine · 2019Article
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11 authors at 4 institutions in 2 countries.
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Abstract
backgroundX-linked deafness-4 (DFNX4) caused by functional loss of SMPX is a nonsyndromic form of progressive hearing loss with post-lingual onset. Herein, we describe a male neonate from an ethnic Han Chinese family who presented with congenital deafness.
methodsThe proband and the family members were subjected to comprehensively hearing screen. Genetic testing was carried out using whole-exome sequencing (WES). The result was verified by Sanger sequencing. Functional characterization of the identified variant was completed by reverse transcription PCR (RT-PCR), Sanger sequencing, and fluorogenic quantitative PCR (qPCR).
resultsThe proband was diagnosed with progressive sensorineural hearing loss. The proband's mother showed normal hearing at present. The proband's maternal grandmother exhibited mild HL since the age of 50. Using whole-exome sequencing (WES), we identified a donor splice-site variant (NM_014332.2: c.132 + 1G>A) in the SMPX gene in the proband. The mother and maternal grandmother were both carriers, which suggested a X-linked inheritance of the condition in the family. RT-PCR and Sanger sequencing revealed that four alternative splice pairs within intron 3 have led to four aberrant RNAs transcripts, including two non-canonical splice-pairs (GC-AG and CT-AG). The variant generated a novel frameshift variant, creating a premature termination codon (PTC) upstream of a newly formed splice site (p.Met45Glyfs*16). SMPX mRNA expression assay showed that the PTC has caused degradation of mRNA via nonsense-mediated mRNA decay (NMD).
conclusionThis is the first study to report a SMPX (DFNX4) splicing variant in a Chinese family. These findings, especially congenital deafness, contributed to existing knowledge regarding the genotypic and phenotypic spectrum of SMPX-associated hearing loss.
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