Genetic analysis of three patients with Kleefstra syndrome.
10.3760/cma.j.cn511374-20200814-00602
- Author:
Yuhong GONG
1
;
Xiaoming ZHU
;
Wen LI
;
Guizhen DONG
;
Biao XU
;
Hongling ZHAO
Author Information
1. Xianning Central Hospital (the First Affiliated Hospital of Hubei University of Science and Technology), Xianning, Hubei 437100, China. hbzhaohl@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Deletion;
Chromosomes, Human, Pair 9;
Craniofacial Abnormalities;
DNA Copy Number Variations;
Female;
Genetic Testing;
Heart Defects, Congenital;
Humans;
Intellectual Disability/genetics*;
Mutation
- From:
Chinese Journal of Medical Genetics
2021;38(4):347-350
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical and genetic features of three patient diagnosed with Kleefstra syndrome.
METHODS:Whole exome sequencing (WES) was carried out for the probands and their parents. Suspected variants were validated by Sanger sequencing. Copy number variations (CNV) were detected by CNV-seq and validated by real-time PCR.
RESULTS:Proband 1 was found to carry a de novo heterogeneous variant (c.823+1G>T) of the EHMT1 gene, which may affect its expression. Based on the guidelines of the American College of Medical Genetics and Genomics, the variant was predicted to be pathogenic (PVS1+PS2+PM2). Proband 2 was found to carry a de novo missense variant c.439C>G (p.L147V) of the EHMT1 gene, which was predicted to be likely pathogenic (PS2+PM1+PM2+PP3). Proband 3 was found to carry a heterozygous 520 kb deletion at 9q34.3 by CNV-seq. The deletion has encompassed the whole of the EHMT1 gene. Real-time PCR has detected no CNV of this region in her parents.
CONCLUSION:Variants of the EHMT1 gene probably underlay the disease in these patients. Genetic testing has provided a basis for their clinical diagnosis.
