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Medicina is published by MDPI from Volume 54 Issue 1 (2018). Articles in this Issue were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence. Articles are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Lithuanian Medical Association, Lithuanian University of Health Sciences, and Vilnius University.
Open AccessArticle

Genetic linkage studies of a North Carolina macular dystrophy family

1
Latvian Biomedical Research and Study Center, Riga, Latvia
2
Ophthalmology Clinic, Pauls Stradins Clinical University Hospital, Riga, Latvia
3
Vision Center, Children's Clinical University Hospital, Riga, Latvia
4
Centre Hospitalier De l'Université Laval, Québec, Canada
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Medicina 2016, 52(3), 180-186; https://doi.org/10.1016/j.medici.2016.04.001
Received: 11 May 2015 / Revised: 3 April 2016 / Accepted: 5 April 2016 / Published: 19 April 2016
Background and objective: North Carolina macular dystrophy (NCMD) is a very rare autosomal dominant hereditary disease. Up to date there are three types of NCMD described and consequently named macular dystrophy, retinal: MCDR1, MCDR2 and MCDR3. The aim of this study was to perform linkage and copy number variation analysis for the family affected by NCMD followed by the selected candidate gene sequencing.
Materials and methods: This study concerned a 3-generation, non-consanguineous Latvian family with NCMD. Genome-wide scan, copy number variation and non-parametric linkage analysis was performed. Analysis resolved the locus of interest to the 5p15.33 region. Two of the genes, iroquois homeobox 2 (IRX2) and iroquois homeobox 4 (IRX4), were selected and sanger sequencing was performed.
Results: Linkage analysis indicated a region on chromosome 5 for the analyzed family, corresponding to a genetic locus previously described for MCDR3 (5p15-p13). Chromosomal aberrations were not identified in the affected family members. An upstream intron variant (NM_001278634: c.-139G > A (rs6876836)) in IRX4 gene segregated with NCMD phenotype in the analyzed family.
Conclusions: It is unlikely to be the causative mutation of NCMD due to its high minor allele frequency 0.3532. Therefore, the role of IRX2 and IRX4 genes in the pathogenesis of NCMD has not been proved. Considerable variability in visual acuity between individuals of the same age group in all the families examined was noted. No overlap between NCMD grade and family generation was seen in the family described in the present study.
Keywords: North Carolina macular dystrophy; Drusen; Proband; Parafoveolar hemorrh age; Genome-wide microarray analysis North Carolina macular dystrophy; Drusen; Proband; Parafoveolar hemorrh age; Genome-wide microarray analysis
MDPI and ACS Style

Audere, M.; Rutka, K.; Inaskina, I.; Peculis, R.; Sepetiene, S.; Valeina, S.; Lāce, B. Genetic linkage studies of a North Carolina macular dystrophy family. Medicina 2016, 52, 180-186.

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