A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia.
Adolescent
Attention Deficit Disorder with Hyperactivity
/ complications
Autistic Disorder
/ complications
Epilepsy
/ complications
Heterozygote
Humans
Intellectual Disability
/ genetics
Kinesins
/ genetics
Male
Mutation
Mutation, Missense
Paraplegia
/ complications
Sensation Disorders
/ complications
KIF1A
attention deficit disorder with hyperactivity
autism
hereditary sensory and autonomic neuropathies
psychomotor hyperactivity
spastic paraplegia
Journal
Internal medicine (Tokyo, Japan)
ISSN: 1349-7235
Titre abrégé: Intern Med
Pays: Japan
ID NLM: 9204241
Informations de publication
Date de publication:
15 Mar 2020
15 Mar 2020
Historique:
pubmed:
10
12
2019
medline:
24
9
2020
entrez:
10
12
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 31813911
doi: 10.2169/internalmedicine.3661-19
pmc: PMC7118386
doi:
Substances chimiques
KIF1A protein, human
0
Kinesins
EC 3.6.4.4
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
839-842Références
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