A case of Sandhoff disease caused by a novel ß-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.
Medicine (Baltimore)
; 102(24): e33890, 2023 Jun 16.
Article
em En
| MEDLINE
| ID: mdl-37327298
ABSTRACT
BACKGROUND:
Sandhoff disease (SD, Online Mendelian Inheritance in Man 268800) is an autosomal recessive lysosomal storage disorder caused by variants of the ß-hexosaminidase B (HEXB) gene (Online Mendelian Inheritance in Man 606873). The HEXB gene has been mapped to chromosome 5q13 and contains 14 exons. The symptoms of SD include progressive weakness, intellectual disability, visual and hearing impairment, exaggerated startle response, and seizures; the patients usually die before the age of 3 years.[1]. CASESUMMARY:
We present a case of SD caused by a homozygous frameshift mutation in the HEXB gene, c.118delG (p.A40fs*24). The male child, aged 2 years 7 months, showed movement retrogression with orbital hypertelorism at age 2 years, accompanied by seizures. Magnetic resonance imaging of the head showed cerebral atrophy and delayed myelination of the white matter of the brain.CONCLUSION:
A novel homozygous frameshift c.118delG (p.A40fs*24) variant of HEXB has caused SD in the child. The major symptoms are intellectual disability, visual and hearing impairment, and seizures. Investigation will be continued in the future to comprehensively describe the genotype/phenotype and gain information on other associated features to understand the variable expressivity of this condition.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doença de Sandhoff
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Humans
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Male
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article