A unique PRDM13-associated variant in a Georgian Jewish family with probable North Carolina macular dystrophy and the possible contribution of a unique CFH variant.

Conclusions: NCMD has a wide spectrum of clinical phenotypes that can overlap with AMD, making it challenging to correctly diagnose affected individuals and family members. The DNA sequence variant we found in the CFH gene of some of the affected family members may suggest some role as a modifier gene. However, this variant still does not explain the huge phenotypic variability of NCMD and needs to be studied in other and larger populations. PMID: 32476814 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/32476814?dopt=Abstract

Source: Molecular Vision - June 3, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research