典型文献
Causal Variants of the
GJB6 Gene are Associated with Hearing Loss and Skin Manifestations: A Case Report from Turkey
文献摘要：
Introduction::The gap junction beta 6 (
GJB6) gene encodes connexin 30. This protein plays critical role in tissues and is responsible for the formation of gap junctions, which have a wide variety of physiological functions. Disease-associated variants of
GJB6 cause non-syndromic hearing loss (HL) and skin lesions.
Case presentation::The 1-year-old girl patient was diagnosed with bilateral HL when she was 1 month old. Apart from this, the patient’s motor/mental development and physical examination were normal. As a result of the analysis with the multi-gene panel, the causative genomic change, c.175G>A(p.Gly59Arg) in the
GJB6 gene was determined as heterozygous. Segregation analysis proved the same genotype in the patient’s mother and grandfather. The patient’s mother and grandfather had bilateral HL and palmoplantar hyperkeratosis phenotype. The patient was diagnosed with Clouston syndrome, and genetic counseling was provided to her family.
Discussion::Causal variants of
GJB6 cause skin manifestations and signs of HL. Molecular diagnosis of these patients is a valuable tool for clinicians in reaching their optimal treatment and clinical management.
Conclusion::In syndromic cases in which many organs are affected, the determination of the causative gene is important in directing the patients to appropriate observation, screening, and treatment strategies.
文献关键词：
hearing loss;GJB6;palmoplantar keratoderma;Clouston syndrome
中图分类号：
作者姓名：
Duzkale Neslihan;Aygar Gamze Tas;Keseroglu Kemal;Mutlu Murad;Ugur Mehmet Birol
作者机构：
Department of Medical Genetic, Diskapi Yildirim Beyazit Training and Research Hospital, Altindag, Ankara 06110, Turkey;Department of Dermatology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey;Department of Otorhinolaryngology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey;Department of Otorhinolaryngology, Gazi University, School of Medicine, Bestepe, Ankara, Turkey
文献出处：
引用格式：
[1]Duzkale Neslihan;Aygar Gamze Tas;Keseroglu Kemal;Mutlu Murad;Ugur Mehmet Birol-.Causal Variants of the
GJB6 Gene are Associated with Hearing Loss and Skin Manifestations: A Case Report from Turkey
)[J].国际皮肤性病学杂志（英文）,2022(03):166-168
A类：
GJB6,Turkey
,175G,Gly59Arg,the
,Clouston,keratoderma
B类：
Causal,Variants,Gene,are,Associated,Hearing,Loss,Skin,Manifestations,Case,Report,from,Introduction,gap,beta,encodes,connexin,This,protein,plays,critical,role,tissues,responsible,formation,junctions,which,have,wide,variety,physiological,functions,Disease,associated,variants,cause,syndromic,hearing,loss,HL,skin,lesions,presentation,year,old,girl,was,diagnosed,bilateral,when,she,month,Apart,this,motor,mental,development,physical,examination,were,normal,result,analysis,multi,panel,causative,genomic,change,determined,heterozygous,Segregation,proved,same,genotype,mother,grandfather,had,palmoplantar,hyperkeratosis,phenotype,syndrome,genetic,counseling,provided,family,Discussion,manifestations,signs,Molecular,diagnosis,these,patients,valuable,tool,clinicians,reaching,their,optimal,treatment,clinical,management,Conclusion,cases,many,organs,affected,determination,important,directing,appropriate,observation,screening,strategies
AB值：
0.56182
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