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首页> 外文期刊>Molecular syndromology >De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome
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De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome

机译：从头到尾KAT6B突变鉴定为全基因组测序的女孩，说一个理发师/比塞克/年轻-辛普森综合征

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Say-Barber/Biesecker/Young-Simpson syndrome (SBBYSS; OMIM 603736) is a rare syndrome with multiple congenital anomalies/malformations. The clinical diagnosis is usually based on a phenotype with a mask-like face and severe blepharophimosis and ptosis as well as other distinctive facial traits. We present a girl with dysmorphic features, an atrial septal defect, and developmental delay. Previous genetic testing (array-CGH, 22q11 deletion, PTPN11 and MLL2 mutation analysis) gave normal results. We performed whole-exome sequencing (WES) and identified a heterozygous nonsense mutation in the KAT6B gene, {"type":"entrez-nucleotide","attrs":{"text":"NM_001256468.1","term_id":"374349204","term_text":"NM_001256468.1"}}NM_001256468.1: c.4943C>G (p.S1648*). The mutation led to a premature stop codon and occurred de novo. KAT6B sequence variants have previously been identified in patients with SBBYSS, and the phenotype of the girl is similar to other patients diagnosed with SBBYSS. This case report provides additional evidence for the correlation between the KAT6B mutation and SBBYSS. If a patient is suspected of having a blepharophimosis syndrome or SBBYSS, we recommend sequencing the KAT6B gene. This is a further example showing that WES can assist diagnosis.
机译：Say-Barber / Biesecker / Young-Simpson综合征（SBBYSS; OMIM 603736）是一种罕见的综合征，具有多种先天性异常/畸形。临床诊断通常基于具有面罩状面孔和严重的睑缘病和上睑下垂以及其他独特面部特征的表型。我们介绍了一个具有畸形特征，房间隔缺损和发育迟缓的女孩。先前的基因检测（阵列CGH，22q11缺失，PTPN11和MLL2突变分析）给出了正常结果。我们进行了全外显子测序（WES），并在KAT6B基因中鉴定了一个杂合的无义突变，{“ type”：“ entrez-nucleotide”，“ attrs”：{“ text”：“ NM_001256468.1”，“ term_id”： “ 374349204”，“ term_text”：“ NM_001256468.1”}} NM_001256468.1：c.4943C> G（p.S1648 *）。突变导致终止密码子过早发生并从头发生。先前已在SBBYSS患者中鉴定出KAT6B序列变异，该女孩的表型与其他被诊断为SBBYSS的患者相似。该病例报告为KAT6B突变与SBBYSS之间的相关性提供了更多证据。如果怀疑患者患有睑缘增生综合征或SBBYSS，我们建议对KAT6B基因进行测序。这是另一个示例，显示WES可以帮助诊断。

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