Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
Am J Med Genet A
; 191(1): 29-36, 2023 Jan.
Article
de En
| MEDLINE
| ID: mdl-36177608
ABSTRACT
De novo truncating and splicing pathogenic variants in the Additional Sex Combs-Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features. We previously reported 45 patients with ASXL3-related disorder including three individuals with a familial variant. Here we report the detailed clinical and molecular characteristics of these three families with inherited ASXL3-related disorder. First, a father and son with c.2791_2792del p.Gln931fs pathogenic variant. The second, a mother, daughter and son with c.4534C > T, p.Gln1512Ter pathogenic variant. The third, a mother and her daughter with c.4441dup, p.Leu1481fs maternally inherited pathogenic variant. This report demonstrates intrafamilial phenotypic heterogeneity and confirms heritability of ASXL3-related disorder.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Malformations multiples
/
Incapacités de développement
/
Déficience intellectuelle
Limites:
Child
/
Female
/
Humans
Langue:
En
Journal:
Am J Med Genet A
Sujet du journal:
GENETICA MEDICA
Année:
2023
Type de document:
Article
Pays d'affiliation:
Royaume-Uni