Exome sequencing of Saudi Arabian patients with ADPKD

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalpeer-review

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  • Fahad A. Al-Muhanna
  • Abdullah M. Al-Rubaish
  • Chittibabu Vatte
  • Shamim Shaikh Mohiuddin
  • Cyril Cyrus
  • Arafat Ahmad
  • Mohammed Shakil Akhtar
  • Mohammad Ahmad Albezra
  • Rudaynah A. Alali
  • Afnan F. Almuhanna
  • Kai Huang
  • Feras Al-Kuwaiti
  • Tamer S. Ahmed Elsalamouni
  • Abdullah Al Hwiesh
  • Xiaoyan Huang
  • Brendan Keating
  • Matthew B. Lanktree
  • Amein K. Al-Ali

Related Research Unit(s)


Original languageEnglish
Pages (from-to)842–849
Journal / PublicationRenal Failure
Issue number1
Online published5 Sep 2019
Publication statusPublished - 2019



Purpose: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive development of kidney cysts and enlargement and dysfunction of the kidneys. The Consortium of Radiologic Imaging Studies of the Polycystic Kidney Disease (CRISP) cohort revealed that 89.1% had either a PKD1 or PKD2 mutation. Of the CRISP patients with a genetic cause detected, mutations in PKD1 accounted for 85%, while mutations in the PKD2 accounted for the remaining 15%. Here, we report exome sequencing of 16 Saudi patients diagnosed with ADPKD and 16 ethnically matched controls. 
Methods: Exome sequencing was performed using combinatorial probe-anchor synthesis and improved DNA Nanoballs technology on BGISEQ-500 sequencers (BGI, China) using the BGI Exome V4 (59 Mb) Kit. Identified variants were validated with Sanger sequencing. 
Results: With the exception of GC-rich exon 1, we obtained excellent coverage of PKD1 (mean read depth ¼ 88) including both duplicated and non-duplicated regions. Of nine patients with typical ADPKD presentations (bilateral symmetrical kidney involvement, positive family history, concordant imaging, and kidney function), four had protein truncating PKD1 mutations, one had a PKD1 missense mutation, and one had a PKD2 mutation. These variants have not been previously observed in the Saudi population. In seven clinically diagnosed ADPKD cases but with atypical features, no PKD1 or PKD2 mutations were identified, but rare predicted pathogenic heterozygous variants were found in cystogenic candidate genes including PKHD1, PKD1L3, EGF, CFTR, and TSC2
Conclusions: Mutations in PKD1 and PKD2 are the most common cause of ADPKD in Saudi patients with typical ADPKD.

Research Area(s)

  • ADPKD, PKD1, Saudi Arabia, CFTR, EGF, TSC2

Citation Format(s)

Exome sequencing of Saudi Arabian patients with ADPKD. / Al-Muhanna, Fahad A.; Al-Rubaish, Abdullah M.; Vatte, Chittibabu; Mohiuddin, Shamim Shaikh; Cyrus, Cyril; Ahmad, Arafat; Shakil Akhtar, Mohammed; Albezra, Mohammad Ahmad; Alali, Rudaynah A.; Almuhanna, Afnan F.; Huang, Kai; Wang, Lusheng; Al-Kuwaiti, Feras; Elsalamouni, Tamer S. Ahmed; Al Hwiesh, Abdullah; Huang, Xiaoyan; Keating, Brendan; Li, Jiankang; Lanktree, Matthew B.; Al-Ali, Amein K.

In: Renal Failure, Vol. 41, No. 1, 2019, p. 842–849.

Research output: Journal Publications and Reviews (RGC: 21, 22, 62)21_Publication in refereed journalpeer-review

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