Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report
<strong>Background</strong> We 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. <br> <strong>Case presentation</strong> A 43-year-old fe...
| Hoofdauteurs: | , , , , , , , |
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| Formaat: | Journal article |
| Taal: | English |
| Gepubliceerd in: |
BioMed Central
2021
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| _version_ | 1826287401377464320 |
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| author | Al-Khuzaei, S Hudspith, KAZ Broadgate, S Shanks, ME Clouston, P Németh, AH Halford, S Downes, SM |
| author_facet | Al-Khuzaei, S Hudspith, KAZ Broadgate, S Shanks, ME Clouston, P Németh, AH Halford, S Downes, SM |
| author_sort | Al-Khuzaei, S |
| collection | OXFORD |
| description | <strong>Background</strong>
We 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.
<br>
<strong>Case presentation</strong>
A 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.
<br>
<strong>Conclusions</strong>
We 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. |
| first_indexed | 2024-03-07T01:58:07Z |
| format | Journal article |
| id | oxford-uuid:9c6e7e52-8b8d-45f9-a0d6-6e1a6e09bb35 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T01:58:07Z |
| publishDate | 2021 |
| publisher | BioMed Central |
| record_format | dspace |
| spelling | oxford-uuid:9c6e7e52-8b8d-45f9-a0d6-6e1a6e09bb352022-03-27T00:35:59ZTargeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case reportJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:9c6e7e52-8b8d-45f9-a0d6-6e1a6e09bb35EnglishSymplectic ElementsBioMed Central2021Al-Khuzaei, SHudspith, KAZBroadgate, SShanks, MEClouston, PNémeth, AHHalford, SDownes, SM<strong>Background</strong> We 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. <br> <strong>Case presentation</strong> A 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. <br> <strong>Conclusions</strong> We 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. |
| spellingShingle | Al-Khuzaei, S Hudspith, KAZ Broadgate, S Shanks, ME Clouston, P Németh, AH Halford, S Downes, SM Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report |
| title | Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report |
| title_full | Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report |
| title_fullStr | Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report |
| title_full_unstemmed | Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report |
| title_short | Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report |
| title_sort | targeted next generation sequencing and family survey enable correct genetic diagnosis in crx associated macular dystrophy a case report |
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