Objective To analyze the genetic characteristics,clinical manifestations and audiological features associated with a non-syndromic LHFPL5 gene mutation in a deaf family. Methods A total of 131 deaf students from a special education school in Yunnan Province were selected as subjects for this study. Four common genes associated with deafness (GJB2,GJB3,SLC26A4 and mtDNA 12S rRNA) were screened using a microarray chip kit. One family proband who exhibited negative results on the chip but had a relevant family history was chosen for sequencing 227 known human deafness-related genes. The mutation sites relatives were then confirmed through Sanger sequencing. Results This study identified a family exhibiting non-syndromic deafness attributed to a novel mutation in the LHFPL5 gene. Within this lineage spanning four traceable generations,there were four affected deaf individuals alongside an additional four existing patients. The inheritance followed an autosomal recessive pattern. A new mutation site within the LHFPL5 gene was discovered at c.187G>C (p.Gly63Arg). Conclusion The LHFPL5 c.187G>C variant may be responsible for nonsyndromic autosomal recessive deafness observed in this family. The homozygous mutation C (p.Gly63Arg) primarily manifests as congenital hearing loss. Notably,mutations within the LHFPL5 gene are rare occurrences linked to autosomal recessive forms of hearing impairment.
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