A Study on a Novel POU3F4 Mutation Associated with X-linked inheritance deafness-2 Leading to Multisystem Clinical Manifestations
LIU Shuo
QI Xin
HUNG Shasha
DAI Pu
ZHANG Fan
SU Yu
Abstract：Objective The aim is to investigate the pathogenic role of a novel POU3F4 mutation in incomplete partition type Ⅲ(IP-Ⅲ)and its association with multisystem dysfunction.Methods Comprehensive evaluations were conducted on the proband,including detailed medical history collection,thorough physical examinations,audiological assessments,radiological tests,hormone level testing,whole-exome sequencing,and family segregation analysis.Results The pedigree was consistent with an X-linked recessive inheritance pattern.The proband exhibited bilateral profound sensorineural hearing loss,with imaging revealing typical incomplete partition type Ⅲ.Additionally,the proband presented with growth retardation,testicular hypoplasia,reduced pituitary height,and neurodevelopmental issues such as attention deficit.Laboratory findings indicated multiple functional abnormalities along the hypothalamic-pituitary-endocrine axis.Whole-exome sequencing identified a novel POU3F4 mutation,c.401_404dup(p.Gln136Leufs*58),which was consistent with genotypic and phenotypic co-segregation.Conclusion POU3F4 mutations may result in multisystem dysfunction.However,the definition and treatment strategies for syndromic hearing loss associated with POU3F4 mutations require further investigation and validation.
Keywords：X-linked inheritance deafness-2POU3F4incomplete partition type Ⅲ(IP-Ⅲ)multisystem clinical manifestations
Publication Date：2025-04-15
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：8( 240-247 )