Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population.
Adv Exp Med Biol
; 1185: 269-273, 2019.
Article
em En
| MEDLINE
| ID: mdl-31884623
ABSTRACT
Inherited retinal diseases (IRDs) are genetically and phenotypically diverse, and they cause significant morbidity worldwide. Importantly, IRDs may be amenable to precision medicine strategies, and thus the molecular characterisation of causative variants is becoming increasingly important with the promise of personalised therapies on the horizon. ABCA4, involved in the translocation of visual cycle derivatives, is a well-established, frequent cause of IRDs worldwide, with pathogenic variants implicated in phenotypically diverse diseases. Identification of causative ABCA4 variants in some individuals, however, has been enigmatic, and resolution of this issue is currently a hotbed of research. Recent evidence has indicated that hypomorphic alleles, which cause disease under certain conditions, may account for some of the missing causal variants. It has been postulated that the ABCA4 c.5603A>T (p.Asn1868Ile) variant, previously considered benign, be reclassified as hypomorphic when in cis configuration with c.2588G>C (p.Gly863Ala/Gly863del), a variant previously considered to be pathogenic in its own right. We are exploring this relationship within an Australian cohort to test this theory.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Retinianas
/
Transportadores de Cassetes de Ligação de ATP
Limite:
Humans
País/Região como assunto:
Oceania
Idioma:
En
Revista:
Adv Exp Med Biol
Ano de publicação:
2019
Tipo de documento:
Article