Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report

被引：6

作者：

Ruan, Wen-Cong ^{[1
]}

Wang, Jia ^{[2
]}

Yu, Yong-Lin ^{[1
]}

Che, Yue-Ping ^{[1
]}

Ding, Li ^{[1
]}

Li, Chen-Xi ^{[1
]}

Wang, Xiao-Dong ^{[2
]}

Li, Hai-Feng ^{[1
]}

机构：

[1] Zhejiang Univ, Childrens Hosp, Dept Rehabil, Sch Med, Hangzhou 310052, Zhejiang, Peoples R China

[2] Cipher Gene LLC, Beijing 100080, Peoples R China

来源：

BMC MEDICAL GENETICS | 2020年 / 21卷 / 01期

关键词：

Spastic tetraplegia; Sequencing; Mutation; Rehabilitation; DEFICIENCY CAUSES; AP-4; PARAPLEGIA;

D O I：

10.1186/s12881-020-0988-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Introduction The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47). Case presentation Here we present a Chinese patient with spastic tetraplegia, moderate psychomotor development delay and febrile seizures plus. Brain MRIs showed dilated supratentorial ventricle, thin posterior and splenium part of corpus callosum. The patient had little progress through medical treatments and rehabilitating regimens. Whole exome sequencing identified novel compound heterozygous truncating variants c.1207C > T (p.Gln403*) and c.52_53delAC (p.Cys18Glnfs*7) in AP4B1 gene. Causal mutations in AP4B1 have been reported in 29 individuals from 22 families so far, most of which are homozygous mutations. Conclusions Our study enriched the genetic and phenotypic spectrum of SPG47. Early discovery, diagnosis and proper treatment on the conditions generally increase chances of improvement on the quality of life for patients.

引用

页数：6