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

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

doi:10.1007/s10072-021-05152-y

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

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

Center for Medical Genetics

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

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.

Original language	English
Pages (from-to)	2975-2978
Number of pages	4
Journal	Neurological Sciences
Volume	42
Issue number	7
DOIs	https://doi.org/10.1007/s10072-021-05152-y
Publication status	Published - 2021 Jul

Keywords

ADCY5
Dyskinesia
Intellectual disability
Movement disorder

ASJC Scopus subject areas

Dermatology
Clinical Neurology
Psychiatry and Mental health

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s10072-021-05152-y

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title = "Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability",

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.",

keywords = "ADCY5, Dyskinesia, Intellectual disability, Movement disorder",

author = "Nobuhiko Okamoto and Fuyuki Miya and Yukihiro Kitai and Tatsuhiko Tsunoda and Mitsuhiro Kato and Shinji Saitoh and Yonehiro Kanemura and Kenjiro Kosaki",

note = "Funding Information: We thank the family members for their participation. This research was supported by the Practical Research Project for Rare/Intractable Diseases of the Japan Agency for Medical Research and Development, AMED. Publisher Copyright: {\textcopyright} 2021, Fondazione Societ{\`a} Italiana di Neurologia.",

year = "2021",

month = jul,

doi = "10.1007/s10072-021-05152-y",

language = "English",

volume = "42",

pages = "2975--2978",

journal = "Italian Journal of Neurological Sciences",

issn = "1590-1874",

publisher = "Springer-Verlag Italia",

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}

TY - JOUR

T1 - Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability

AU - Okamoto, Nobuhiko

AU - Miya, Fuyuki

AU - Kitai, Yukihiro

AU - Tsunoda, Tatsuhiko

AU - Kato, Mitsuhiro

AU - Saitoh, Shinji

AU - Kanemura, Yonehiro

AU - Kosaki, Kenjiro

N1 - Funding Information: We thank the family members for their participation. This research was supported by the Practical Research Project for Rare/Intractable Diseases of the Japan Agency for Medical Research and Development, AMED. Publisher Copyright: © 2021, Fondazione Società Italiana di Neurologia.

PY - 2021/7

Y1 - 2021/7

N2 - 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.

AB - 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.

KW - ADCY5

KW - Dyskinesia

KW - Intellectual disability

KW - Movement disorder

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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