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Observational Study
. 2018 Feb 16;18(1):64.
doi: 10.1186/s12887-018-1004-3.

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

Mingyan Hei  1   2 , Xiangyu Gao  3 , Lingqian Wu  4
Affiliations
Observational Study

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

Mingyan Hei et al. BMC Pediatr. .

Abstract

Background: Cornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China.

Methods: This is an observational study. Suspected patients were referred for further confirmation, clinical treatment, and genetic testing under voluntary condition. Demographic data and family history, data of clinical manifestations including facial dysmorphism and developmental delay of each patient were collected. Chromosomal analysis and NIPBL/SMC1A/SMC3 gene mutational analysis were carried out by PCR, reverse transcription PCR direct sequencing in the probands, and SNP array to detect the genome-wide copy number variations.

Results: Twenty CdLS cases from China were included in this study. Facial dysmorphisms, feeding difficulties, and developmental delay were the major clinical manifestations. Seven patients underwent gene mutation tests. Both the SMC1A and SMC3 gene mutation tests were negative in all. A heterozygous mutation in exon 20 of the NIPBL gene in proband 2, and a heterozygous mutation in intron 38 of the NIPBL gene in proband 3 were found in 1 patient, and RT-PCR revealed a splicing mutation in exon 38, generating both normal transcript and an aberrant alternatively spliced transcript with exon 38 deletion.

Conclusions: Clinical manifestations of CdLS patients from China are similar to those in the other countries. Heterozygous mutations of NIPBL gene were found.

Keywords: Child; China; Clinical; Cornelia de Lange syndrome; Genetic; Newborn.

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Conflict of interest statement

Author’s information

Dr. Mingyan Hei, Pediatrician, M.D., Ph.D., ex-head of NICU of the Third Xiangya Hospital of Central South University, Changsha, Hunan, China. Now working as the vice-head of Neonatal Center of Beijing Children’s Hospital of Capital Medical University, Beijing, China. Dr. Xiangyu Gao, Pediatrician, M.D., vice director of Department of Pediatrics of Xuzhou Affiliated Hospital of East South University, Xuzhou, Jiangsu, China. Dr. Lingqian Wu, Obstetrician, M.D., Ph.D., chairman of Hunan Provincial Medical Genetic Committee, executive head of National Key Lab of Medical Genetics of Central South University, Changsha, Hunan, China.

Ethics approval and consent to participate

This study was conducted in accordance with the 1964 Helsinki Declaration or comparable standards, and approved by the Ethics Committee Review Board of Central South University (No. 2011-S096). As common administrative policies, each hospital authorizes the registered staff to access patients’ data during their serves periods. Informed written consent was obtained from all individual participants included in the study.

Consent for publication

We got written consents from parents of the three CdLS neonates to allow us to publish the photos for research purpose (The scanned images of these consents are available for review if required).

Competing interests

The author(s) declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Facial and Other Dysmorphisms of 3 Chinese Cornelia de Lange Syndrome Neonates. All three neonates (a, b, c) had hypertrichosis of the eyebrows, synophrys, long eyelashes, broad depressed nasal bridge, and long and shallow philtrum (in neonate b and c, the excessive hair had been shaved by the parents). The marble-like skin was recognized on the chest wall. One of them was a preterm (a), while the other two (b, c) were term infants. Hands of the first infant were typically small with thin finger tips (d). The third infant had hypospadias (e)
See this image and copyright information in PMC

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