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Saudi Journal of Kidney Diseases and Transplantation
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CASE REPORT Table of Contents   
Year : 2019  |  Volume : 30  |  Issue : 4  |  Page : 964-968
Identification of a new homozygous CEP290 gene mutation in a Saudi Family causing joubert syndrome using next-generation sequencing

1 Department of Internal Medicine, King Abdulaziz Hospital, Ministry of National Guard Health Affairs, Al-Ahsa, Saudi Arabia
2 Department of Internal Medicine, College of Medicine, King Faisal University, Al-Ahsa, Saudi Arabia

Correspondence Address:
Elbadri Abdelgadir
Department of Internal Medicine, King Abdulaziz Hospital, Ministry of National Guard Health Affairs, Al-Ahsaa
Saudi Arabia
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DOI: 10.4103/1319-2442.265475

PMID: 31464256

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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.

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