Mutational spectrum in a Chinese cohort with congenital cataracts.
Mol Genet Genomic Med
; 11(9): e2196, 2023 09.
Article
en En
| MEDLINE
| ID: mdl-37337769
ABSTRACT
BACKGROUND:
To identify the mutational spectrum in a Chinese cohort with congenital cataracts.METHODS:
Probands (n = 164) with congenital cataracts and their affected or unaffected available family members were recruited for clinical examinations and panel-based next-generation sequencing, then classified into a cohort for further mutational analysis.RESULTS:
After recruitment (n = 442; 228 males and 214 females), 49.32% (218/442) of subjects received a clinical diagnosis of congenital cataracts, and 56.88% (124/218) of patients received a molecular diagnosis. Eighty-four distinct variants distributed among 43 different genes, including 42 previously reported variants and 42 novel variants, were detected, and 49 gene variants were causally associated with patient phenotypes; 27.37% of variants (23/84) were commonly detected in PAX6, GJA8 and CRYGD, and the three genes covered 33.06% of cases (41/124) with molecular diagnosis. The majority of genes were classified as genes involved in nonsyndromic congenital cataracts (19/43, 44.19%) and were responsible for 56.45% of cases (70/124). The majority of functional and nucleotide changes were missense variants (53/84, 63.10%) and substitution variants (74/84, 88.10%), respectively. Nine de novo variants were identified.CONCLUSION:
This study provides a reference for individualized genetic counseling and further extends the mutational spectrum of congenital cataracts.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Catarata
/
Pueblos del Este de Asia
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2023
Tipo del documento:
Article
País de afiliación:
China