BRPF1 gene mutation caused intellectual developmental disorder with dysmorphic facies and ptosis: a case report and literature review / 中华实用儿科临床杂志

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.