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Open AccessCase Report

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome

1
Institute of Genome Research, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam
2
Center for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Hospital of Pediatrics, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Medicina 2020, 56(2), 76; https://doi.org/10.3390/medicina56020076 (registering DOI)
Received: 25 December 2019 / Revised: 29 January 2020 / Accepted: 10 February 2020 / Published: 14 February 2020
Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits. Main causes of CdLS have been reported as variants in cohesin complex genes, in which mutations in the NIPBL gene have been estimated to account for up to 80%. Our study included three Vietnamese patients with typical CdLS phenotypes. Whole exome sequencing revealed two known heterozygous mutations c.6697G>A (p.Val2233Met) and c.2602C>T (p.Arg868X), and a novel heterozygous mutation c.4504delG (p.Val1502fsX87) in the NIPBL gene of the three patients. In silico analyses of the identified mutations predicted possible damaging and truncating effects on the NIPBL protein. Inherited analyses in the patients’ families showed that all of the mutations are de novo. Our results lead a definitive diagnosis of patients with CdLS and expand the spectrum of mutations in the NIPBL gene. These findings also confirm whole exome sequencing is an efficient tool for genetic screening of CdLS. View Full-Text
Keywords: Cornelia de Lange; de novo mutation; NIBPL; c.6697G>A; c.2602C>T; c.4504delG; whole exome sequencing Cornelia de Lange; de novo mutation; NIBPL; c.6697G>A; c.2602C>T; c.4504delG; whole exome sequencing
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Thanh, D.C.; Ngoc, C.T.B.; Nguyen, N.-L.; Vu, C.D.; Tung, N.V.; Nguyen, H.H. De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome. Medicina 2020, 56, 76.

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