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Case Reports
. 2015 Oct;57(5):880-3.
doi: 10.1111/ped.12742.

Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss

Satoru Sakazume  1 , Yasuhiro Kido  1 , Nobuyuki Murakami  1 , Tomoyo Matsubara  1 , Hironao Numabe  2
Affiliations
Case Reports

Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss

Satoru Sakazume et al. Pediatr Int. 2015 Oct.

Abstract

Background: To the best of our knowledge, this is the third report concerning 4q21q22 deletions. In this report, we describe the cases of two girls with 4q deletion and polycystic kidney disease. G-banding confirmed the deletion in one patient but not in the other.

Methods: We describe the cases of two girls with 4q deletion and polycystic kidney disease. Chromosomal deletions were mapped to 4q21-22. One patient had a simple 4q contiguous gene deletion, whereas the other patient had a complicated chromosomal rearrangement. In patient 1, a smaller part of the 4q deletion was translocated to the 3p region.

Results: Fifty-four genes and 72 genes were deleted in patients 1 and 2, respectively. In both patients, 52 genes were consistently deleted.

Conclusion: The present two patients had a similar phenotype, including severe growth and developmental retardation, and a characteristic facial appearance. The loss of RPKG2 and RASGEF1B causes severe growth defect. PKD2 loss causes kidney cysts.

Keywords: 4q21q22 deletion; developmental delay; growth delay; polycystic kidney disease.

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