一例KAT6B变异所致Say-Barber-Biesecker-Young-Simpson患儿的临床诊断

Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene

目的:分析1例因反应迟钝就诊的3月龄女婴的临床及分子遗传学特征。方法:对患儿进行基因检测,并将患儿的表型与KAT6B基因变异相关的两种综合征的主要特征进行比较。结果:患儿具有手指/脚趾长、面具脸、睑裂短小、睑下垂、泪道异常等特征,其KAT6B基因第16外显子存在新发杂合致病变异c.3040C>T(p.Gln1014^(*)),与Say-Barber-Biesecker-Young-Simpson(SBBYSS)综合征的特征相符。结论:患儿被诊断为SBBYSS综合征,但也具有部分独特的表现。本病例的发现扩大了Say-Barber-Biesecker-Young-Simpson综合征的表型及变异谱。

Objective To analyze the genotype and clinical phenotype of a 3-month-old female infant featuring unresponsiveness.Methods The infant was subjected to genetic testing,and her clinical features were compared with syndromes associated with variants of the candidate gene.Results The patient has featured long fingers,long and overlapped toes,musk-like face,blepharophimosis,ptosis,and lacrimal duct anomaly.She was found to harbor a heterozygous de novo variant NM_012330.3:c.3040C>T(p.Gln1014^(*))in exon 16 of the KAT6B gene.Her clinical phenotype and genotype have both conformed to Say-Barber-Biesecker-Young-Simpson syndrome(SBBYSS).Conclusion The child was diagnosed with SBBYSS syndrome due to the c.3040C>T(p.Gln1014^(*))variant of the the KAT6B gene.Discovery of the unique features has expanded the phenotypic spectrum of this syndrome.