BRYANT-LI-BHOJ神经发育综合征2型1例并文献复习

A case report of BRYANT-LI-BHOJ neurodevelopmental syndrome 2 and literature review

回顾性分析2022年10月在南京医科大学附属儿童医院康复医学科确诊的1例BRYANT-LI-BHOJ神经发育综合征2型(BRYLIB2)患儿临床资料。患儿,女,7月龄,因"发现运动发育落后6个月"就诊,主要表现为四肢肌张力低,竖头困难,追视、追听欠佳,逗笑欠佳,腭裂伴呼吸困难及喂养困难,临床诊断为全面性发育迟缓。全外显子测序显示患儿H3F3B基因新发杂合突变c.11(exon2)C>T,生物信息学分析提示该突变有害。结合既往文献及本例研究,结果显示患儿均表现发育迟缓,考虑为H3F3B基因突变导致的氨基酸序列改变,致使H3.3蛋白中翻译后修饰出现改变,从而引发患儿表观症状。本例为国内首次报道的BRYLIB2病例,丰富了H3F3B基因的变异谱和临床表型谱,为该病的临床诊疗及后续研究提供了基础。

A retrospective analysis was made on clinical data of a child with BRYANT-LI-BHOJ neurodevelopmental syndrome 2(BRYLIB2)diagnosed in Department of Rehabilitation,Children′s Hospital of Nanjing Medical University in October 2022.The patient,a 7-month-old girl,was admitted to the hospital for motor development lagging behind for 6 months,manifested as low muscle tone in the extremities,difficulty in erecting the head,poor tracking and listening,difficulty in getting amused,and cleft palate with breathing and feeding difficulties.The clinical diagnosis suggested comprehensive developmental delay.Whole-exome sequencing revealed a novel heterozygous mutation c.11(exon2)C>T in the H3F3B gene of the patient.The bioinformatics analysis results suggested that the mutation is harmful.The literature review showed that all patients exhibited varying degrees of developmental delay.It was considered that changes in the amino acid sequence caused by H3F3B gene mutations led to changes in the post-translational modification of the H3.3 protein,thereby causing apparent symptoms in this patient.This case is the first reported case of BRYLIB2 in China,enriching the variation spectrum and clinical phenotype spectrum of the H3F3B gene and providing a valuable foundation for the clinical diagnosis,treatment,and subsequent research of this disease.