X-linked intellectual disability related to a novel variant of KLHL15.
Hum Genome Var
; 10(1): 21, 2023 Jul 14.
Article
em En
| MEDLINE
| ID: mdl-37452054
ABSTRACT
Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, frequent hypoglycemia, and periodic fever. Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Japão