摘要
本文报告了1例同时患有Usher综合征及合并型甲基丙二酸血症的患儿。患儿为2月龄男性,为小于胎龄儿,新生儿期曾因“喂养困难”住院治疗,生后肌张力低、小头畸形伴听力损失。基因检测显示该患儿MMACHC基因c.482G>A和c.567dup位点存在复合杂合变异,均为致病变异,分别来自患儿父母;同时患儿存在USH2A基因c.2802T>G和c.14017T>C位点复合杂合变异,前者为疑似致病性,后者临床意义未明,变异来自患儿父母,临床诊断Usher综合征及甲基丙二酸血症合并同型半胱氨酸血症。随访至2岁余,患儿智能发育中度落后,体格发育与同龄儿相当。
A case of Usher syndrome with methylmalonic acidemia and homocysteine is reported.The patient was a two-month-old and small for gestational age male infant hospitalized for"feeding difficulties"during the neonatal period.The baby boy presented hypotonia,microcephaly,and hearing loss after birth.Genetic test found compound heterozygous mutations of c.482G>A and c.567dup in MMACHC,and both were pathogenic mutations inherited from his parents.Moreover,the patient also had compound heterozygous variants at c.2802T>G and c.14017T>C of USH2A gene.The former was suspected to be pathogenic,and the latter was of unknown clinical significance.Both were from the parents.Usher syndrome and methylmalonic acidemia with homocysteine were clinically diagnosed.Followed up to the age of two,the child was found with moderate mental retardation,while the physical development was comparable to that of the same age group.
作者
王玉娟
田进军
牛琳媛
刘丽琴
蓝信强
Wang Yujuan;Tian Jinjun;Niu Linyuan;Liu Liqin;Lan Xinqiang(Department of Medical Genetics,Weihai Maternal and Child Health Hospital Affiliated to Qingdao University,Weihai 264200,China)
出处
《中华围产医学杂志》
CAS
CSCD
北大核心
2022年第12期975-977,共3页
Chinese Journal of Perinatal Medicine
