Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features-Reference-Cited by-同舟云学术

Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features

Published:2017 Issue: Volume:2017 Page:1-4
ISSN:2090-6544
Container-title:Case Reports in Genetics
language:en
Short-container-title:Case Reports in Genetics

Author:

Bulut Ozgul¹^ORCID,Ince Zeynep¹,Altunoglu Umut²,Yildirim Sukran¹,Coban Asuman¹

Affiliation:

1. Department of Pediatrics, Division of Neonatology, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey

2. Medical Genetics Department, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey

Abstract

Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. Most affected individuals do not survive after childhood because of the severity of this disorder. Here, we report SETBP1 mutation confirmed by molecular analysis in a case of SGS with congenital megacalycosis.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/crig/2017/3740524.pdf

Reference19 articles.

1. A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs

2. Schinzel-Giedion syndrome: further delineation of the phenotype

3. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

4. Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel–Giedion syndrome

5. Schinzel-Giedion syndrome