Mutation in

Journal

Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068

Informations de publication

Date de publication:
Aug 2021
Historique:
received: 25 09 2020
accepted: 03 05 2021
entrez: 4 8 2021
pubmed: 5 8 2021
medline: 5 8 2021
Statut: epublish

Résumé

To determine whether mutations reported for We examined protein function of 4 identified variants in ZDHHC15 in a yeast complementation assay and locomotor defects of loss-of-function genotypes in a Although we assessed multiple patient variants, only 1 (p.H158R) affected protein function. We report a patient with a diagnosis of hypotonic cerebral palsy, autism, epilepsy, and intellectual disability associated with this bona fide damaging X-linked variant. Features include tall forehead with mild brachycephaly, down-slanting palpebral fissures, large ears, long face, facial muscle hypotonia, high-arched palate with dental crowding, and arachnodactyly. The patient had mild diminished cerebral volume, with left-sided T2/FLAIR hyperintense periatrial ovoid lesion. We found that loss-of-function mutations in orthologs of this gene cause flight and coordinated movement defects in Our findings support a functional expansion of this gene to a role in motor dysfunction. Although

Identifiants

DOI: 10.1212/NXG.0000000000000602 PMID: 34345675 PMC: PMC8323736
pubmed: 34345675
doi: 10.1212/NXG.0000000000000602
pii: NG2020015933
pmc: PMC8323736
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e602

Subventions

Organisme : NHLBI NIH HHS
ID : R00 HL143036
Pays : United States

Informations de copyright

Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Sara A Lewis (SA)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.
ORCID: 0000-0003-2560-1681

Somayeh Bakhtiari (S)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.

Jennifer Heim (J)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.

Patricia Cornejo (P)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.

James Liu (J)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.

Aris Huang (A)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.

Andrew Musmacker (A)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.

Sheng Chih Jin (SC)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.

Kaya Bilguvar (K)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.
ORCID: 0000-0002-7313-7652

Sergio R Padilla-Lopez (SR)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.

Michael C Kruer (MC)

Pediatric Movement Disorders Program (S.A.L., S.B., J.H., J.L., S.R.P.-L., M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital; Departments of Child Health, Neurology, Genetics and Cellular & Molecular Medicine (S.A.L., S.B., J.L., S.R.P.-L., M.C.K.), University of Arizona College of Medicine; Division of Neuroradiology (P.C.), Department of Radiology, Phoenix Children's Hospital, AZ; Programs in Neuroscience and Molecular & Cellular Biology (A.H., A.M.), Arizona State University, Tempe; and Department of Genetics (S.C.J.), Washington University, St. Louis, MO; Department of Genetics (K.B.), Yale University, New Haven, CT.

Classifications MeSH