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01-07-2021 | Severe Disorder of Intellectual Development | Brief Communication

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability

Authors: Nobuhiko Okamoto, Fuyuki Miya, Yukihiro Kitai, Tatsuhiko Tsunoda, Mitsuhiro Kato, Shinji Saitoh, Yonehiro Kanemura, Kenjiro Kosaki

Published in: Neurological Sciences | Issue 7/2021

Abstract

Background

Mutations of theADCY5 have been identified in patients with familial dyskinesia, early-onsetautosomal dominant chorea and dystonia, and benign hereditary chorea. Most ofthe ADCY5 mutations are de novo or transmitted in an autosomal dominantfashion. Only two pedigrees are known to show autosomal recessive inheritance.

Objectives

We report twosiblings with severe ID, dystonic movement, and growth failure with unknownetiology.

Methods

We planned a proband-parentapproach using whole exome sequencing.

Results

Homozygous mutationin exon 21 of the ADCY5 (p.R1238W) was identified in the siblings. Althoughtheir parents were heterozygous for the mutation, they were free from clinicalmanifestations.

Conclusions

Our results furtherexpand the phenotype/genotype correlations of the ADCY5-related disorders.Mutations of ADCY5 should be considered in pediatric patients with ID andinvoluntary movement.

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Title: Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability
Authors: Nobuhiko Okamoto
Fuyuki Miya
Yukihiro Kitai
Tatsuhiko Tsunoda
Mitsuhiro Kato
Shinji Saitoh
Yonehiro Kanemura
Kenjiro Kosaki
Publication date: 01-07-2021
Publisher: Springer International Publishing
Keywords: Severe Disorder of Intellectual Development
Disorders of Intellectual Development
Dystonia
Intellectual Disability
Movement Disorder
Published in: Neurological Sciences / Issue 7/2021
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05152-y

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability

Abstract

Background

Objectives

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Objectives

Methods

Results

Conclusions

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