A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia

被引：16

作者：

Kurihara, Masanori ^{[1
]}

Ishiura, Hiroyuki ^{[1
]}

Bannai, Taro ^{[1
]}

Mitsui, Jun ^{[1
,2
]}

Yoshimura, Jun ^{[3
]}

Morishita, Shinichi ^{[3
]}

Hayashi, Toshihiro ^{[1
,4
]}

Shimizu, Jun ^{[1
]}

Toda, Tatsushi ^{[1
]}

Tsuji, Shoji ^{[1
,2
]}

机构：

[1] Univ Tokyo, Grad Sch Med, Dept Neurol, Tokyo, Japan

[2] Univ Tokyo, Grad Sch Med, Dept Mol Neurol, Tokyo, Japan

[3] Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, Tokyo, Japan

[4] Teikyo Univ, Dept Physiol, Sch Med, Tokyo, Japan

来源：

INTERNAL MEDICINE | 2020年 / 59卷 / 06期

关键词：

KIF1A; spastic paraplegia; hereditary sensory and autonomic neuropathies; autism; attention deficit disorder with hyperactivity; psychomotor hyperactivity; DE-NOVO MUTATIONS; PROTEIN KIF1A; MOTOR DOMAIN; NEUROPATHY; TRANSPORT; DOMINANT;

D O I：

10.2169/internalmedicine.3661-19

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Heterozygous mutations in KIF1A have been reported to cause syndromic intellectual disability or pure spastic paraplegia. However, their genotype-phenotype correlations have not been fully elucidated. We herein report a man with autism and hyperactivity along with sensory disturbance and spastic paraplegia, carrying a novel de novo mutation in KIF1A [c.37C>T (p.R13C)]. Autism and hyperactivity have only previously been reported in a patient with c.38 G>A (R13H) mutation. This case suggests that alterations in this arginine at codon 13 might lead to a common clinical spectrum and further expand the genetic and clinical spectra associated with KIF1A mutations.

引用

页码：839 / 842

页数：4

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