Case report of Weaver syndrome caused by EZH2 gene mutation

VernacularTitle:EZH2基因变异致Weaver综合征1例
Author: Xuewen YUAN ; Shanshan CHU ; Dandan WANG ; Qianqi LIU ; Wei GU
From: Chinese Journal of Applied Clinical Pediatrics 2021;36(5):380-382
CountryChina
Language:Chinese
Abstract: The clinical data of a case of Weave syndrome admitted in the Department of Endocrinology, Children′s Hospital of Nanjing Medical University in October 2018 were retrospectively analyzed.The patient was a 9 years and 2 months old girl, who was hospitalized because of " growing too fast for 9 years" . After birth, the child is found to grow fast and have mental retardation, slurred speech, a blurred vision, a long face, a protruding forehead, ocular hypertelorism, epicanthus, nasal bridge pit, finger pads on both hands and feet, uncoordinated gaits, and intoeingpigeon toes.A novel heterozygous c. 1720A>G (p.K574E) mutation was detected in the exon 15 of the EZH2 gene of the patient.This mutation has not been reported at home and overseas.Sanger sequencing revealed that the patient′s parents did not carry the mutation.The disease is an autosomal dominant genetic disorder, and the parents and sibling of the patient have no corresponding symptoms, so it is inferred that the mutation is spontaneous.Based on the peculiarity of the face, clinical manifestations and the results of molecular genetics, the child was diagnosed as Weaver syndrome.