BRPF1 gene mutation caused intellectual developmental disorder with dysmorphic facies and ptosis: a case report and literature review
10.3760/cma.j.cn101070-20210228-00245
- VernacularTitle:BRPF1基因突变致伴畸形面相和上睑下垂的智力发育障碍1例并文献复习
- Author:
Sanping WANG
1
;
Xiaoyun ZHAO
Author Information
1. 甘肃省人民医院儿科，兰州 730000
- Keywords:
BRPF1 gene;
Facial malformation;
Mental retardation;
Ptosis
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(12):951-953
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data of a child with intellectual developmental disorder with dysmorphic facies and ptosis (IDDDFP) admitted to the Department of Pediatrics of Gansu Provincial People′s Hospital in December 2020 were retrospectively analyzed and related literatures were reviewed.The female child was at the age of 6 months, with birth weight of 2.8 kg, hypodystonia, underdevelopment, blepharophimosis, slightly ptosis and six fingers deformity.Whole exome sequencing showed that the patient′s BRPF1 gene c. 1631G>A (p.Trp544Ter) heterozygous pathogenic variant was a novel IDDDFP-related mutation, which was consistent with the phenotype and inheritance pattern of the subject.A total of 27 patients with IDDDFP were found in 6 articles, including 4 pedigrees.The patients displayed different degrees of mental disability and facial deformities, psychomotor and language retardation, epilepsy and other clinical features.When the clinical manifestations of children are mental retardation, ptosis, psychomotor and language retardation, and epilepsy, IDDDFP should be considered, and gene sequencing can make a clear diagnosis.
