Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ].

To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS). History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect mutations related to the phenotype. Suspected mutations were verified in the parents through Sanger sequencing. Prenatal ultrasound found that the forearms and hands of the fetus were anomalous, in addition with poorly formed vermis cerebellum, slight micrognathia, and increased echo of bilateral renal parenchyma. Examination of the abortus has noted upper limb and facial malformations. Whole exome sequencing revealed that the fetus carried a heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene. The same mutation was not found in either parent. The heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene probably underlies the CdLS in the fetus. Above finding has provided a basis for the genetic counseling for the family.

Citation

Yuan Lyu, Caixia Liu, Chuang Li, Huan Li, Jesse Li-Ling, Meihui Li. Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2021 Jan 10;38(1):67-70

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PMID: 33423262

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