Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
Bain type syndromic mental retardation
HNRNPH1; HNRNPH2
Rett syndrome
exome sequencing
intellectual disability
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
04 2020
04 2020
Historique:
received:
19
10
2019
revised:
05
12
2019
accepted:
27
12
2019
pubmed:
17
1
2020
medline:
4
2
2021
entrez:
17
1
2020
Statut:
ppublish
Résumé
Missense variants in HNRNPH2 cause Bain type syndromic X-linked intellectual disability (XLID). To date, only six affected females and three affected males have been reported in the literature, and the phenotype has yet to be delineated in detail. Here, we report on a 35-year-old female with a novel de novo variant in HNRNPH2, providing further evidence that missense changes in the nuclear localization sequence cause Bain type XLID and that aminoacid 206 likely represents a mutational hotspot. We expand the phenotype of Bain type XLID to include breathing, sleep and movement disorders, cerebellar vermis hypoplasia, stereotypies, and hypersensitivity to noise. Our data indicate that the phenotype may be broader and more variable than initially reported, and suggest Rett syndrome as a possible differential diagnosis.
Identifiants
pubmed: 31943778
doi: 10.1002/ajmg.a.61486
doi:
Substances chimiques
HNRNPH2 protein, human
0
Heterogeneous-Nuclear Ribonucleoprotein Group F-H
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
823-828Subventions
Organisme : Italian Ministry of Education, University and Research
ID : Dipartimenti di Eccellenza (2018-2022)
Pays : International
Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
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