Ophthalmic research · 2021
Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness.
СтатьяНазвание и аннотация: Перевод в очереди
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Azhar Baig Hafiz Muhammad, Ansar Muhammad, Iqbal Afia, Naeem Muhammad Asif, Quinodoz Mathieu, Calzetti Giacomo, Iqbal Muhammad, Rivolta Carlo
Аннотация
INTRODUCTION: Congenital stationary night blindness (CSNB) is a rare, largely nonprogressive, inherited retinal disorder that can be clinically classified on the basis of fundus and electroretinogram abnormalities.
METHODS: We analyzed four large consanguineous families from the Southern Punjab region of Pakistan including multiple individuals affected with CSNB. Exome sequencing was performed in probands of all four families; Sanger sequencing was performed in additional members to test co-segregation of the variants identified.
RESULTS: We identified two novel and likely pathogenic variants in two pedigrees, namely, NM_002905.4:c.668A>C (p.Gln223Pro) in RDH5 and NM_022567.2:c.908del (p.Gly303ValfsTer45) in NYX. In the two other families, the variants NM_002905.4:c.319G>C (p.Gly107Arg) in RDH5 and NM_000541.5:c.874C>T (p.Arg292Ter) in SAG were identified. These latter mutations have been reported previously, but not in the Pakistani population.
CONCLUSIONS: Our findings expand the mutational spectrum of CSNB, in particular within the population of Southern Punjab.
METHODS: We analyzed four large consanguineous families from the Southern Punjab region of Pakistan including multiple individuals affected with CSNB. Exome sequencing was performed in probands of all four families; Sanger sequencing was performed in additional members to test co-segregation of the variants identified.
RESULTS: We identified two novel and likely pathogenic variants in two pedigrees, namely, NM_002905.4:c.668A>C (p.Gln223Pro) in RDH5 and NM_022567.2:c.908del (p.Gly303ValfsTer45) in NYX. In the two other families, the variants NM_002905.4:c.319G>C (p.Gly107Arg) in RDH5 and NM_000541.5:c.874C>T (p.Arg292Ter) in SAG were identified. These latter mutations have been reported previously, but not in the Pakistani population.
CONCLUSIONS: Our findings expand the mutational spectrum of CSNB, in particular within the population of Southern Punjab.