Alström syndrome caused by maternal uniparental disomy.
Am J Ophthalmol Case Rep
; 29: 101745, 2023 Mar.
Article
em En
| MEDLINE
| ID: mdl-36636630
ABSTRACT
Purpose:
To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic variant, ALMS1 c.2141_2141del (p.Ser714Tyrfs*6), that was only found in his mother and not his father. In contrast to the usual autosomal recessive inheritance pattern in which a child inherits a variant from each parent, multi-step genetic testing of the child and both parents confirmed uniparental disomy as the mechanism of inheritance. Conclusions and Importance Confirmation of uniparental disomy in autosomal recessive disorders allows for parental assurance that future offspring will be unaffected.
Texto completo:
1
Base de dados:
MEDLINE
Tipo de estudo:
Prognostic_studies
Idioma:
En
Revista:
Am J Ophthalmol Case Rep
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos