Quick Search:

uzh logo
Browse by:
bullet
bullet
bullet
bullet

Zurich Open Repository and Archive

Eggermann, Thomas; Spengler, Sabrina; Venghaus, Andreas; Denecke, Bernd; Zerres, Klaus; Baudis, Michael; Ensenauer, Regina (2012). 2p21 Deletions in hypotonia-cystinuria syndrome. European Journal of Medical Genetics, 55(10):561-563.

Full text not available from this repository.

View at publisher

Abstract

The significant role of the SLC3A1 gene in the aetiology of cystinuria is meanwhile well established and more than 130 point mutations have been reported. With the reports on genomic deletions including at least both SLC3A1 and the neighboured PREPL gene the spectrum of cystinuria mutations and of clinical symptoms could recently be enlarged: patients homozygous for these deletions suffer from a general neonatal hypotonia and growth retardation in addition to cystinuria. The hypotonia in these hypotonia-cystinuria (HCS) patients has been attributed to the total loss of the PREPL protein. Here we report on the clinical course and molecular findings in a HCS patient compound heterozygote for a new deletion in 2p21 and a previously reported deletion, both identified by molecular karyotyping. The diagnostic workup in this patient illustrates the need for a careful clinical examination in context with powerful molecular genetic tools in patients with unusual phenotypes. The identification of unique genomic alterations and their interpretation serves as a prerequisite for the individual counselling of patients and their families. In diagnostic strategies to identify the molecular basis of both cystinuria and hypotonia 2p21 deletions should be considered as the molecular basis of the phenotype.

Citations

1 citation in Web of Science®
2 citations in Scopus®
Google Scholar™

Altmetrics

Downloads

0 downloads since deposited on 26 Sep 2012
0 downloads since 12 months

Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:07 Faculty of Science > Institute of Molecular Life Sciences
DDC:570 Life sciences; biology
Language:English
Date:17 July 2012
Deposited On:26 Sep 2012 15:44
Last Modified:27 Nov 2013 18:19
Publisher:Elsevier
ISSN:1769-7212
Publisher DOI:10.1016/j.ejmg.2012.06.008
PubMed ID:22766003

Users (please log in): suggest update or correction for this item

Repository Staff Only: item control page