BMC Ophthalmology | |
Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report | |
Suzanne Broadgate1  Karl A. Z. Hudspith1  Stephanie Halford1  Andrea H. Németh2  Susan M. Downes3  Saoud Al-Khuzaei3  Morag E. Shanks4  Penny Clouston4  | |
[1] Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK;Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK;Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK;Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK;Oxford Eye Hospital, John Radcliffe Hospital, Headley Way, OX9 3DU, Oxford, UK;Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; | |
关键词: Retina; Macular dystrophy; Next generation sequencing; CRX; ABCA4 sequence variant, mutation; Phenotype/genotype, reduced penetrance, family survey; | |
DOI : 10.1186/s12886-021-01919-1 | |
来源: Springer | |
【 摘 要 】
BackgroundWe present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX.Case presentationA 43-year-old female with bull’s eye maculopathy, whose sister was diagnosed with Stargardt disease previously at another centre, was found to have a single ABCA4 variant. Further examination of the family revealed that the asymptomatic father was also affected, indicating a dominant pattern of inheritance. In addition, the ABCA4 variant was not identified in the sister originally diagnosed with Stargardt disease. Next generation sequencing identified a heterozygous c.121C > T, p.R41W missense mutation in CRX in all 3 affected members.ConclusionsWe describe a common phenotype, but with variable age at onset, with autosomal dominant inheritance and reduced penetrance in a family found to have a pathogenic sequence variant in CRX. This illustrates the importance of panel based molecular genetic testing accompanied by family studies to establish a definitive diagnosis.
【 授权许可】
CC BY
【 预 览 】
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