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: | Elbadri Abdelgadir, Muthana Al Sahlawi, Lulwah Al Turki, Khamess Khamees, Wasim Ahmed |
---|---|
Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2019-01-01
|
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 |
Similar Items
-
Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features. [version 2; peer review: 2 approved]
by: Gazmend Temaj, et al.
Published: (2023-03-01) -
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome
by: Minna Luo, et al.
Published: (2019-12-01) -
An unusual case of a patient who lost his native kidneys and renal allograft from cholesterol crystal emboli
by: Wasim Ahmed, et al.
Published: (2015-01-01) -
Cep131-Cep162 and Cby-Fam92 complexes cooperatively maintain Cep290 at the basal body and contribute to ciliogenesis initiation
by: Zhimao Wu, et al.
Published: (2024-03-01) -
A Mild Phenotype Caused by Two Novel Compound Heterozygous Mutations in <i>CEP290</i>
by: Agnieszka Rafalska, et al.
Published: (2020-10-01)