Phenotypic Expansion of TBX4 Mutations to Include Acinar Dysplasia of the Lungs
Phenotypic Expansion of TBX4 Mutations to Include Acinar Dysplasia of the Lungs
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DOI：
10.1002/ajmg.a.37822
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发表时间：
2016-09-01
影响因子：
2
通讯作者：
Stankiewicz, Pawel
中科院分区：
文献类型：
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作者：
Szafranski, Przemyslaw;Coban-Akdemir, Zeynep H.;Stankiewicz, Pawel
据报道，坐骨氧足髌骨综合征 (MIM# 147891) 和儿童期发病的肺动脉高压患者的 T-box 转录因子 TBX4 基因发生突变。对一名出生仅 1 天的已故新生儿进行全外显子组 DNA 测序，该新生儿患有严重弥漫性发育性肺病，表现出腺泡发育不良的特征，她未受影响的父母在 DNA 结合 T 盒结构域中发现了新的 TBX4 错义突变 p.E86Q (c.256G>C)。我们建议对 TBX4 相关临床疾病谱进行表型扩展，将肺部腺泡发育不良纳入其中。报道的突变是第一个确定的导致腺泡发育不良的遗传变异。 (C) 2016 年 Wiley 期刊公司。
Mutations in the T-box transcription factor TBX4 gene have been reported in patients with Ischiocoxopodopatellar syndrome (MIM# 147891) and childhood-onset pulmonary arterial hypertension. Whole exome sequencing of DNA from a 1 day old deceased newborn, with severe diffuse developmental lung disorder exhibiting features of acinar dysplasia, and her unaffected parents identified a de novo TBX4 missense mutation p.E86Q (c.256G>C) in the DNA-binding T-box domain. We propose phenotypic expansion of the TBX4-related clinical disease spectrum to include acinar dysplasia of the lungs. The reported mutation is the first identified genetic variant causative for acinar dysplasia. (C) 2016 Wiley Periodicals, Inc.