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Additional patients with 4q deletion: Severe growth delay and polycystic kidney disease associated with 4q21q22 loss
Author(s) -
Sakazume Satoru,
Kido Yasuhiro,
Murakami Nobuyuki,
Matsubara Tomoyo,
Numabe Hironao
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12742
Subject(s) - medicine , polycystic kidney disease , phenotype , gene , kidney disease , disease , kidney , growth retardation , genetics , autosomal dominant polycystic kidney disease , bioinformatics , pathology , biology , pregnancy
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.