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

• Main Authors: Maryam Najafi (Author), Dor Mohammad Kordi Tamandani (Author), Anoush Azarfar (Author), Zeineb Bakey (Author), Farkhondeh Behjati (Author), Dinu Antony (Author), Isabel Schüle (Author), Simin Sadeghi-Bojd (Author), Ehsan Ghayoor Karimiani (Author), Miriam Schmidts (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...