Identifying candidate genes underlying isolated congenital anosmia.
Clin Genet
; 105(4): 376-385, 2024 04.
Article
en En
| MEDLINE
| ID: mdl-38148624
ABSTRACT
An estimated 1 in 10 000 people are born without the ability to smell, a condition known as congenital anosmia, and about one third of those people have non-syndromic, or isolated congenital anosmia (ICA). Despite the significant impact of olfaction for our quality of life, the underlying causes of ICA remain largely unknown. Using whole exome sequencing (WES) in 10 families and 141 individuals with ICA, we identified a candidate list of 162 rare, segregating, deleterious variants in 158 genes. We confirmed the involvement of CNGA2, a previously implicated ICA gene that is an essential component of the olfactory transduction pathway. Furthermore, we found a loss-of-function variant in SREK1IP1 from the family gene candidate list, which was also observed in 5% of individuals in an additional non-family cohort with ICA. Although SREK1IP1 has not been previously associated with olfaction, its role in zinc ion binding suggests a potential influence on olfactory signaling. This study provides a more comprehensive understanding of the spectrum of genetic alterations and their etiology in ICA patients, which may improve the diagnosis, prognosis, and treatment of this disorder and lead to better understanding of the mechanisms governing basic olfactory function.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Calidad de Vida
/
Trastornos del Olfato
Límite:
Humans
Idioma:
En
Revista:
Clin Genet
/
Clin. genet
/
Clinical genetics
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos