检索历史 清除

目的:总结PYCR1基因变异引起的遗传性皮肤松弛症ⅡB型新生儿临床特点。方法:对2023年昆明市儿童医院新生儿科收治的2例遗传性皮肤松弛症ⅡB型患儿临床资料进行回顾性分析，以“皮肤松弛症”“常染色体隐性皮肤松弛症”“PYCR1基因”“新生儿”“先天性”为关键词，检索中国知网、维普数据库、万方数据库、中华医学期刊全文数据库，以“cutis laxa”“autosomal recessive cutis laxa”“PYCR1 gene”“newborn”“congenital”为关键词检索PubMed、Clinical trials和Embase数据库自建库至2023年6月1日收录的相关文献，总结PYCR1基因变异相关的遗传性皮肤松弛症ⅡB型患儿的临床表型和基因特点。结果:昆明市儿童医院收治的2例患儿均为足月小于胎龄儿，新生儿期即表现为特殊面容、喂养困难、皮肤松弛、生长迟缓及不同程度的髋关节脱位。家系全外显子检测结果提示2例患儿均存在PYCR1基因变异，分别为c.743G>A：p.G248E纯合错义变异和c.345del：p.R116Gfs*6纯合移码变异。文献检索到110例PYCR1基因相关皮肤松弛症ⅡB型病例，主要临床表型为皮肤松弛（100%）、生长发育迟缓（98.2%）、特殊面容（包括三角脸、球状鼻等）（96.4%）、宫内生长受限（91.8%）、髋关节脱位（83.6%）、智力障碍（81.8%）、腹壁静脉显露（80.9%）、肌张力减低（79.1%）、手指挛缩或拇指内收（77.3%）、前囟增大（61.8%）、腹股沟疝（49.1%）、蓝巩膜（47.3%）、胼胝体发育异常（20.9%）等。基因变异包括错义变异、剪切位点变异、移码变异、内含子变异、无义变异等。结论:PYCR1 基因变异相关的遗传性皮肤松弛症ⅡB型以皮肤松弛、特殊面容、生长发育迟缓、先天性髋关节脱位等为主要临床表型，与其他类型的皮肤松弛症有部分重叠，明确诊断有赖于基因检测。

Objective:To summarize the clinical characteristics of neonates affected by autosomal recessive cutis laxa (ARCL) Ⅱ B caused by mutations in the PYCR1 gene.Methods:Two neonates with ARCL Ⅱ B caused by PYCR1 gene mutations admitted to our hospital in 2023 were retrospectively analyzed. Relevent literature published up to June 1st 2023 were retrieved from CNKI, Wanfang Database, CQVIP database, Chinese Medical Journal Full-Text Database, PubMed, Clinical trials and Embase with the terms of "cutis laxa" "autosomal recessive cutis laxa" "PYCR1 gene" "newborn" and "congenital". The clinical phenotypes and genotypes of ARCL Ⅱ B caused by PYCR1 gene mutaions were summarized.Results:For our cases, two neonates were both small for gestational age. Both of them had the same clinical characteristics in the neonatal period, including special facial features, torticollis, obvious loose and wrinkled body skin, growth retardation and dislocation of hip joint. The whole exome sequencing revealed that two cases had PYCR1 gene mutations, c.743G>A: p.G248E homozygous missense mutation and c.345del:p.R116Gfs*6 homozygous frameshift mutation. A total of 110 cases with ARCL Ⅱ B caused by PYCR1 gene were retrieved. The main clinical manifestations of cutis laxa caused by PYCR1 gene mutations included skin laxity (100%), growth retardation (98.2%), special facial features(triangular face, bulbous nose) (96.4%), intrauterine growth retardation (91.8%),hip dislocation (83.6%), mental retardation (81.8%),exposed abdominal wall veins (80.9%), hypotonia (79.1%), finger contracture or clasped thumb (77.3%), enlarged anterior fontanelle (61.8%), inguinal hernia (49.1%), blue sclera (47.3%) and dysgenesis of the corpus callosum (20.9%). Genetic mutation included missense mutation, shear site mutation, frameshift mutation, intron mutation, nonsense mutation, etc.Conclusions:The main clinical characteristics of ARCL Ⅱ B caused by PYCR1 gene are skin laxity, special facial, growth retardation, hip dislocation, etc. There are partial clinical manifestations overlap with other types of cutis laxa. Patients presented with the same symptoms should be considered for PYCR1 related ARCL. High-throughput sequencing aids to confirm diagnosis.