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  • Title: [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review].
    Author: Zhang R, He XH, Lin HY, Yang XH.
    Journal: Zhonghua Er Ke Za Zhi; 2018 Feb 02; 56(2):138-141. PubMed ID: 29429203.
    Abstract:
    Objective: To investigate the clinical manifestations and genetic features of a child with Bainbridge-Ropers syndrome caused by ASXL3 gene variation and review the literature. Methods: Clinical data and genetic features were collected and analyzed from a child with Bainbridge-Ropers syndrome who was diagnosed in Bao'an Maternity and Child Health Hospital in November 2016. "ASXL3" and "Bainbridge-Ropers" were used as key words to search at China National Knowledge Infrastructure, Wangfang Data Knowledge Service Platform, PubMed and Human Gene Mutation Database up to June 2017. Results: A 2(9/12) years old girl was presented with psychomotor retardation, feeding difficulty, hypotonia and specific craniofacial phenotype. She showed severe growth retardation (height: 84 cm, body weight: 8.0 kg (both were less than 3(rd) percentile rank of the children at the same age) and head circumference: 46 cm(=3rd percentile rank)), without obvious abnormalities in laboratory tests and neuroimaging tests. A de novo heterozygous nonsense variation: c.3349C>T(p.R1117*) in ASXL3 gene was identified by the whole exome sequencing, and the novel variation was classified into pathologic variant based on Standards and guidelines for the interpretation of sequence variants from ACMG. According to literature retrieval, no Chinese cases with ASXL3 variation had been reported. Totally 28 cases including the present girl harboring ASXL3 variations with detailed clinical information were reported. Thirty-one variations in ASXL3 gene were involved, including 1 missense variation and 30 loss of function variations, which were all de novo variations. Conclusions: The clinical features of Bainbridge-Ropers syndrome include severe psychomotor retardation, feeding difficulties, hypotonia and specific facial features. The heterozygous nonsense variation in ASXL3 gene is the cause of the patient. All the pathogenic variations in ASXL3 gene are de novo and loss of function variations. 目的： 总结ASXL3基因变异致Bainbridge-Ropers综合征的临床表型及遗传学特点。 方法： 回顾性分析深圳市宝安区妇幼保健院产前诊断科2016年11月接诊的1例ASXL3基因变异致Bainbridge-Ropers综合征患儿的临床资料，并以"ASXL3"及"Bainbridge-Ropers"为检索词，分别在中国期刊全文数据库、万方数据知识服务平台、PubMed以及人类基因组突变数据库检索截至2017年7月的相关文献，总结ASXL3基因变异患者的临床表型和基因型。 结果： 患儿　女，2岁9月龄，以"精神运动发育迟缓2年余"就诊，同时合并喂养困难、肌张力低下及特殊面容等，患儿身高84 cm（小于同年龄身高第3百分位），体重8.0 kg（小于同年龄体重第3百分位），头围46 cm（同年龄头围第3百分位），常规血液学、生化、遗传代谢病检测及影像学检测无明显异常，全外显子组高通量测序发现，患儿携带ASXL3基因12号外显子c.3349C>T（p.R1117*）杂合变异，属于新发变异，且该变异国内外尚无报道。根据ACMG序列变异解读标准与指南判定该变异为致病变异。国内尚无ASXL3基因变异患者报道，国外文献报道具有详细表型的患者27例，包括本例患儿共28例。通过检索共发现ASXL3基因的31个基因变异，其中1个为错义变异，其余30个均为功能缺失变异，且皆为新发变异。 结论： Bainbridge-Ropers综合征的临床表现包括重度精神运动发育迟滞、喂养困难、肌张力低下和特殊面容等，ASXL3基因c.3349C>T变异为该患儿的致病原因。ASXL3基因致病性变异均为新发且为功能缺失变异。.
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