[在一名患有心脏-颜面-皮肤综合征的患病患者中鉴定出一种新的MAP2K1基因变异]
[Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome].
作者信息
Wang Qingming, Chen Pengliang, Peng Qian, Liu Jianxin, Huang Yuling, Tang Zhihong, Liu Yanhui, Yuan Haiming
机构信息
Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong 523120, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 May 10;37(5):567-569. doi: 10.3760/cma.j.issn.1003-9406.2020.05.018.
OBJECTIVE
To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants.
METHODS
Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing.
RESULTS
The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic.
CONCLUSION
Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.
目的
探讨由MAP2K1基因变异引起的心脏-颜面-皮肤综合征（CFCS）的基因型-表型相关性。
方法
从一名儿童患者及其父母的外周血样本中提取基因组DNA。对该患者进行全外显子组测序（WES）。通过桑格测序验证疑似变异。
结果
该患者为一名1岁8个月大的中国男性，表现为身材矮小、精神运动发育迟缓、相对巨头畸形、独特的面部特征和先天性心脏病。WES检测显示MAP2K1基因存在杂合错义c.389A>G（p.Tyr130Cys）变异。桑格测序已证实该变异为新发突变。根据美国医学遗传学与基因组学学会（ACMG）/美国分子病理学会（AMP）指南，该变异被分类为致病性变异。
结论
与先前报道的由MAP2K1变异引起的CFCS病例相比。该患者表现出明显的行为问题、食欲良好和三尖瓣反流，这可能是CFCS的新特征。
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