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

BRPF1 gene mutation caused intellectual developmental disorder with dysmorphic facies and ptosis:a case report and literature review

回顾性分析2020年12月甘肃省人民医院儿科收治的1例伴畸形面相和上睑下垂的智力发育障碍(IDDDFP)患儿的临床资料并复习相关文献。患儿,女,6月龄,出生体质量2.8 kg,肌张力低下,发育落后;眼裂狭小,眼睑稍下垂;六指畸形。全外显子测序显示患儿 BRPF1基因c.1631G>A(p.Trp544Ter)杂合致病变异,为IDDDFP相关的新发突变,且符合患儿表型与遗传模式。共检索到6篇文献共27例IDDDFP患者,包括4个家系。患者表现为不同程度智力残疾和面部畸形、精神运动和语言发育迟缓、癫痫等临床特征。当患儿表现为智力障碍、眼睑下垂、精神运动和语言发育迟缓、癫痫等时,需考虑IDDDFP,基因测序可明确诊断。

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.