Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.

Journal

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

Informations de publication

Date de publication:
Feb 2021
Historique:
received: 26 08 2020
accepted: 22 10 2020
entrez: 8 2 2021
pubmed: 9 2 2021
medline: 9 2 2021
Statut: epublish

Résumé

Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a complex neurodevelopmental disorder was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed. A combination of clinical, molecular, and imaging data and functional studies in patient-derived fibroblasts. We report a 4-year-old female with a blended, complex phenotype of Silver-Russell syndrome (SRS) and hereditary spastic paraplegia type 50 (SPG50) caused by total maternal isodisomy of chromosome 7 (UPiD(7)mat) and a loss-of-function variant in This case highlights that atypical clinical features in patients with well-described imprinting disorders should lead to investigations for recessive conditions caused by variants in genes that localize to the region of homozygosity.

Identifiants

DOI: 10.1212/NXG.0000000000000544 PMID: 33553621 PMC: PMC7862086
pubmed: 33553621
doi: 10.1212/NXG.0000000000000544
pii: NG2020015636
pmc: PMC7862086
doi:

Types de publication

Journal Article

Langues

eng

Pagination

e544

Subventions

Organisme : NICHD NIH HHS
ID : P50 HD103557
Pays : United States
Organisme : NINDS NIH HHS
ID : R25 NS070682
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States

Informations de copyright

Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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Auteurs

Marvin Ziegler (M)

Department of Neurology and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.

Bianca E Russell (BE)

Department of Neurology and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.
ORCID: 0000-0003-3934-9800

Kathrin Eberhardt (K)

Department of Neurology and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.

Gregory Geisel (G)

Department of Neurology and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.

Angelica D'Amore (A)

Department of Neurology and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.
ORCID: 0000-0003-4960-2689

Mustafa Sahin (M)

Department of Neurology and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.

Harley I Kornblum (HI)

Department of Neurology and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.

Darius Ebrahimi-Fakhari (D)

Department of Neurology and The F.M. Kirby Neurobiology Center (M.Z., K.E., G.G., A.D., M.S., D.E.-F.), Boston Children's Hospital, Harvard Medical School, MA; Department of Functional Neuroanatomy (M.Z.), Institute of Anatomy and Cell Biology, Heidelberg University, Germany; Division of Genetics (B.E.R.), Department of Pediatrics, David Geffen School of Medicine at UCLA; Translational Neuroscience Center (G.G., M.S.), Boston Children's Hospital, Harvard Medical School, MA; and Intellectual and Developmental Disabilities Research Center (H.I.K.), Semel Institute for Neuroscience and Human Behavior and Department of Psychiatry and Biobehavioral Sciences (H.I.K.), David Geffen School of Medicine at UCLA.
ORCID: 0000-0002-0026-4714

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