Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing
A 19-year-old female with a learning difficulty, ataxia, and nystagmus was referred to our clinic with advanced chronic kidney disease. Her renal biopsy revealed features of nephronophthisis (NPHP). Magnetic resonance imaging of the brain showed “molar tooth sign.” The clinical picture was consisten...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2019-01-01
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| Series: | Saudi Journal of Kidney Diseases and Transplantation |
| Online Access: | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2019;volume=30;issue=4;spage=964;epage=968;aulast=Abdelgadir |
| _version_ | 1811282146601467904 |
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| author | Elbadri Abdelgadir Muthana Al Sahlawi Lulwah Al Turki Khamess Khamees Wasim Ahmed |
| author_facet | Elbadri Abdelgadir Muthana Al Sahlawi Lulwah Al Turki Khamess Khamees Wasim Ahmed |
| author_sort | Elbadri Abdelgadir |
| collection | DOAJ |
| description | A 19-year-old female with a learning difficulty, ataxia, and nystagmus was referred to our clinic with advanced chronic kidney disease. Her renal biopsy revealed features of nephronophthisis (NPHP). Magnetic resonance imaging of the brain showed “molar tooth sign.” The clinical picture was consistent with Joubert syndrome (JS). Two of her siblings were subsequently found to have a similar condition. Genomic material from the patient, her twin sister, and later on from parents was analyzed for deletion/duplication mutations in the NPHP1 gene using multiplex ligation-dependent probe amplification. No genetic defect was discerned. However, applying the emerging “Next-Generation Sequencing (NGS)” method, we identified a novel c.5704G>T mutation in exon 41 of the CEP290 gene on chromosome 12q21. The identification of this novel mutation, that is, highly likely to be pathogenic was compatible with the diagnosis of JS. This mutation may be included in screening and diagnostic panel. NGS provides an excellent screening method for genetic testing. |
| first_indexed | 2024-04-13T01:47:22Z |
| format | Article |
| id | doaj.art-69af10a500bf41a1b40bf87cd283e333 |
| institution | Directory Open Access Journal |
| issn | 1319-2442 |
| language | English |
| last_indexed | 2024-04-13T01:47:22Z |
| publishDate | 2019-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Saudi Journal of Kidney Diseases and Transplantation |
| spelling | doaj.art-69af10a500bf41a1b40bf87cd283e3332022-12-22T03:07:59ZengWolters Kluwer Medknow PublicationsSaudi Journal of Kidney Diseases and Transplantation1319-24422019-01-0130496496810.4103/1319-2442.265475Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencingElbadri AbdelgadirMuthana Al SahlawiLulwah Al TurkiKhamess KhameesWasim AhmedA 19-year-old female with a learning difficulty, ataxia, and nystagmus was referred to our clinic with advanced chronic kidney disease. Her renal biopsy revealed features of nephronophthisis (NPHP). Magnetic resonance imaging of the brain showed “molar tooth sign.” The clinical picture was consistent with Joubert syndrome (JS). Two of her siblings were subsequently found to have a similar condition. Genomic material from the patient, her twin sister, and later on from parents was analyzed for deletion/duplication mutations in the NPHP1 gene using multiplex ligation-dependent probe amplification. No genetic defect was discerned. However, applying the emerging “Next-Generation Sequencing (NGS)” method, we identified a novel c.5704G>T mutation in exon 41 of the CEP290 gene on chromosome 12q21. The identification of this novel mutation, that is, highly likely to be pathogenic was compatible with the diagnosis of JS. This mutation may be included in screening and diagnostic panel. NGS provides an excellent screening method for genetic testing.http://www.sjkdt.org/article.asp?issn=1319-2442;year=2019;volume=30;issue=4;spage=964;epage=968;aulast=Abdelgadir |
| spellingShingle | Elbadri Abdelgadir Muthana Al Sahlawi Lulwah Al Turki Khamess Khamees Wasim Ahmed Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing Saudi Journal of Kidney Diseases and Transplantation |
| title | Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing |
| title_full | Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing |
| title_fullStr | Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing |
| title_full_unstemmed | Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing |
| title_short | Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing |
| title_sort | identification of a new homozygous cep290 gene mutation in a saudi family causing joubert syndrome using next generation sequencing |
| url | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2019;volume=30;issue=4;spage=964;epage=968;aulast=Abdelgadir |
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