A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

Background: Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in CTNS have been identified as causative to date. A 57 kb deletion encompassing parts of CTNS is most...

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Bibliographic Details
Main Authors: Maryam Najafi, Dor Mohammad Kordi Tamandani, Anoush Azarfar, Zeineb Bakey, Farkhondeh Behjati, Dinu Antony, Isabel Schüle, Simin Sadeghi-Bojd, Ehsan Ghayoor Karimiani, Miriam Schmidts
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-03-01
Series:Frontiers in Pediatrics
Subjects:
Cystinosis
CTNS deletion
Middle East population
Iran
tubulopathy
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00089/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00089/full

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