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Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 823-828. Date of Electronic Publication: 2020 Jan 14. - Publication Year :
- 2020
-
Abstract
- 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.<br /> (© 2020 Wiley Periodicals, Inc.)
- Subjects :
- Abnormalities, Multiple pathology
Adult
Exome
Female
Humans
Intellectual Disability pathology
Mental Retardation, X-Linked pathology
Phenotype
Abnormalities, Multiple etiology
Heterogeneous-Nuclear Ribonucleoprotein Group F-H genetics
Intellectual Disability etiology
Mental Retardation, X-Linked etiology
Mutation, Missense
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 182
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 31943778
- Full Text :
- https://doi.org/10.1002/ajmg.a.61486