Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
Am J Med Genet A
; 182(1): 183-188, 2020 01.
Article
en En
| MEDLINE
| ID: mdl-31670473
ABSTRACT
Heterogeneous nuclear ribonucleoproteins (hnRNPs) are RNA binding proteins, which aid in maturation, stabilization, and transport of mRNA. They have a significant role in cellular nucleic acid metabolism. The hnRNPs alter gene expression and are linked to various neurodegenerative disorders and cancers. Previously, six unrelated girls with developmental delay, intellectual disability, and hypotonia were found to have de novo heterozygous pathogenic missense variants in HNRNPH2, located on the X chromosome. A gain-of-function effect was proposed for the variant and it was thought to be lethal in males as no surviving males were identified. We describe a family with two affected siblings, one male and one female, with a known pathogenic variant in HNRNPH2, possibly due to maternal germline mosaicism.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Discapacidades del Desarrollo
/
Predisposición Genética a la Enfermedad
/
Discapacidad Intelectual Ligada al Cromosoma X
/
Ribonucleoproteína Heterogénea-Nuclear Grupo F-H
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
India