A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

Abstract Background Blue Cone Monochromacy (BCM) is a rare congenital cone dysfunction disorder with X-linked recessive mode of inheritance. BCM is caused by mutations at the OPN1LW/MW cone opsin gene cluster including deletions of the locus control region (LCR) and/or parts of the gene cluster. We...

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Bibliographic Details
Main Authors: Elena Buena-Atienza, Fadi Nasser, Susanne Kohl, Bernd Wissinger
Format: Article
Language:English
Published: BMC 2018-06-01
Series:BMC Medical Genetics
Subjects:
De novo mutations
Sporadic cases
Blue Cone Monochromacy
Colour vision deficiency
Alu-mediated recombination
Retinal dystrophy
Online Access:http://link.springer.com/article/10.1186/s12881-018-0623-8

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http://link.springer.com/article/10.1186/s12881-018-0623-8

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