Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature

Molka Kammoun; Wafa Slimani; Hanene Hannachi; Mohamed Bibi; Ali Saad; Soumaya Mougou-Zerelli

doi:10.1055/s-0037-1602696

Journal of Pediatric Genetics, Inhaltsverzeichnis

J Pediatr Genet 2017; 06(04): 215-221
DOI: 10.1055/s-0037-1602696

Original Article

Georg Thieme Verlag KG Stuttgart · New York

Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature

Authors

Molka Kammoun

¹Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Wafa Slimani

¹Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Hanene Hannachi

¹Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Mohamed Bibi

²Department of Obstetrics and Gynecology, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Ali Saad

¹Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia
Soumaya Mougou-Zerelli

¹Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia

Abstract

We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects. This deletion encompasses the IGF1R and COUPTF2 genes, known to lead to fetal growth retardation syndrome. However, kidney malformations are less well known in such conditions, and to the best of our knowledge, no candidate gene has been proposed to date. Here, we review the literature of the 15q26 deletion syndrome and suggest that hypoplastic and multicystic kidneys, the most commonly observed anomalies in this condition, should be considered in the prenatal diagnosis setting. Based on COUPTF2 protein function, we hypothesize that its haploinsufficiency might be responsible for the renal pathology.

Keywords

15q26 deletion - 2q duplication - kidney defect - COUPTF2 - array CGH

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