De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome
复制标题
KAT6B 基因的从头突变导致非典型 Say-Barber-Biesecker-Young-Simpson 综合征或生殖髌骨综合征
DOI：
10.1080/15513815.2017.1281364
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发表时间：
2017-01-01
影响因子：
1.1
通讯作者：
Wang, Jian
中科院分区：
文献类型：
--
作者：
Li, Guoqiang;Li, Niu;Wang, Jian
KAT6B 基因突变导致 Say-Barber-BieseckerYoung-Simpson 综合征 (SBBYSS) 和生殖髌骨综合征 (GPS)，其中大多数突变发生在外显子 18。一名 4 岁中国男孩，身材矮小，但没有 SBBYSS 或 GPS 的其他临床特征，在 KAT6B 基因的外显子 14 位置 c.2636T>A 处出现新的新型无义致病性突变(p.Leu879X)。与KAT6B基因的经典突变相比，基因型-表型的相关性分析显示出独特的临床特征（身材矮小、生长激素缺乏和骨龄延迟）。据我们所知，这是中国个体中首次报道 KAT6B 基因突变。这项工作扩大了 KAT6B 基因的突变表型谱。
Mutations in KAT6B gene are responsible for Say-Barber-BieseckerYoung-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS), with most mutations occurring in exon 18. A 4-year-old Chinese boy presented with short stature but no other clinical features of SBBYSS or GPS had a de novo novel nonsense pathogenic mutation in exon 14 of the KAT6B gene at position c.2636T>A (p.Leu879X). The correlation analysis of genotype-phenotype indicated distinctive clinical features (short stature, growth hormone deficiency, and delayed bone age) compared with the classical mutations of KAT6B gene. To the best of our knowledge, this is the first report of KAT6B gene mutation in any Chinese individual. This work expands the mutant phenotypic spectrum of the KAT6B gene.