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Detection of a novel mutation in a Tunisian child with polycystic kidney disease
Author(s) -
Abdelwahed Mayssa,
Hilbert Pascale,
Ahmed Asma,
Dey Mouna,
Kamoun Hassen,
AmmarKeskes Leila,
Belguith Neïla
Publication year - 2020
Publication title -
iubmb life
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.132
H-Index - 113
eISSN - 1521-6551
pISSN - 1521-6543
DOI - 10.1002/iub.2309
Subject(s) - pkd1 , autosomal dominant polycystic kidney disease , mutation , polycystic kidney disease , disease , genetics , medicine , biology , exon , gene
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common monogenic disease that has an adverse impact on the patients' health and quality of life. ADPKD is usually known as “adult‐type disease,” but rare cases have been reported in pediatric patients. We present here a 2‐year‐old Tunisian girl with renal cyst formation and her mother with adult onset ADPKD. Disease‐causing mutation has been searched in PKD1 and PKD2 using Long‐Range and PCR followed by sequencing. Molecular sequencing displayed us to identify a novel likely pathogenic mutation (c.696 T > G; p.C232W, exon 5) in PKD1 . The identified PKD1 mutation is inherited and unreported variant, which can alter the formation of intramolecular disulfide bonds essential for polycystin‐1 function. We report here the first mutational study in pediatric patient with ADPKD in Tunisia.