摘要
目的探讨一例赖氨酸尿性蛋白耐受不良(Lysinuric Protein Intolerance,LPI)患儿的临床及遗传学特点。方法回顾分析1例LPI患儿的临床特点,通过高通量测序对患儿家系进行基因检测。结果2岁2月,男性患儿,表现为异常哭闹,发育迟缓,身材矮小,厌恶蛋白。高通量测序提示SLC7A7基因存在c.625+1G>A和c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)复合杂合变异,分别来自于表型正常的母亲和父亲,c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)为未报道过的变异。结论LPI临床缺乏特异性,厌恶蛋白是本病的一个明显特征,新位点变异扩展了SLC7A7基因变异谱,基因检测是确诊LPI的关键。
Objective To explore the clinical and genetic characteristics of a child with Lysinuric Protein Intolerance(LPI).Methods The clinical characteristics of a child with LPI were retrospectively analyzed,and the genetic test of the child's pedigree was performed by high-throughput sequencing.Results 2 years and 2 months old,a male child,presented abnormal crying,stunted growth,short stature,and aversion to protein.High-throughput sequencing revealed a complex heterozygous variant of c.625+1G>A and c.225_c.226insAGGGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGT CATC(p.W76Rfs*110)in the SLC7A7 gene,which were derived from the unaffected mother and father respectively.c.225_c.226insAGGGTGTGCTC ATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATC(p.W76Rfs*110)was a mution that had not been reported before.Conclusion LPI lacks specificity in clinic,aversion protein is an obvious feature of this disease,the novel variant expands the mutation spectrum of SLC7A7 gene,and gene detection is the key to diagnose LPI.
作者
郝会民
杨海花
沈凌花
卫海燕
陈永兴
HAO Hui-min;YANG Hai-hua;SHEN Ling-hua;WEI Hai-yan;CHEN Yong-xing(Department of Endocrinology and Inborn Irror of Metabolism,Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital,Zhengzhou Children's Hospital,Zhengzhou 450000,Henan Province,China)
出处
《罕少疾病杂志》
2023年第3期1-2,12,共3页
Journal of Rare and Uncommon Diseases
基金
国家重点研发计划(2017YFC1001700)。
