Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families.
BMC Med Genet
; 21(1): 177, 2020 09 04.
Article
en En
| MEDLINE
| ID: mdl-32887565
BACKGROUND: Keratoconus (KC) is usually bilateral, noninflammatory progressive corneal ectasia in which the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. METHODS: Eight families characterized by consanguineous marriages and/or multiple keratoconic individuals were examined genetically. Whole exome sequencing was done as trio or quadro per family. The output of the filtration procedure, based on minor allele frequency (MAF) less than 0.01 for homozygous variants and MAF equals 0 for heterozygous variants, is 22 missense variants. RESULTS: Based on the gene/protein function five candidate variants were highlighted in four families. Two variants were highlighted in one family within the genes MYOF and STX2, and one variant is highlighted in each of the other three families within the genes: COL6A5, ZNF676 and ZNF765. CONCLUSION: This study is one of the very rare that highlights genetic variants in association with KC.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Predisposición Genética a la Enfermedad
/
Secuenciación del Exoma
/
Queratocono
/
Mutación
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
BMC Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2020
Tipo del documento:
Article
País de afiliación:
Jordania
Pais de publicación:
Reino Unido