Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains.
Eur J Med Genet
; 63(7): 103940, 2020 Jul.
Article
em En
| MEDLINE
| ID: mdl-32360764
ABSTRACT
Pathogenic variants within PAX6 are most often associated with aniridia, but have been linked with other phenotypes such as nystagmus, cataracts and foveal hypoplasia. Data are presented from a large cohort of 434 probands referred for PAX6 diagnostic testing. This analysis identified a wide range of pathogenic variants (n = 145) in 254 probands (including 61 novel variants). Excluding missense variants predicted to affect splicing, all 29 of the remaining missense variants were located within the paired (n = 27) or homeobox (n = 2) domains of the PAX6 protein, providing further evidence that these domains are critical to normal PAX6 function. Genotype-phenotype evidence suggests that while aniridia is associated with most variant types, a much broader clinical spectrum is seen in patients harbouring a missense variant, or a frameshift or run-on variant that results in an elongated or extended PAX6 protein.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Aniridia
/
Genes Homeobox
/
Fator de Transcrição PAX6
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article