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Rucker O.,IMGM Laboratories GmbH | Dangel A.,IMGM Laboratories GmbH | Klein H.-G.,IMGM Laboratories GmbH | Klein H.-G.,Center For Human Genetics And Laboratory Medicine Dr Klein And Dr Rost
LaboratoriumsMedizin | Year: 2013

The intense research focused on the human microbiome during the last years has shed some light on this mostly uncharacterized part of the human body. The constantly improving sequencing technologies have additionally eased the process of collecting a large amount of genome data from metagenomics samples. Using these methods, large studies with sufficient number of subjects have started to reveal the implications of our microbiome in health and disease. Here, we present a review on the last developments of sequencing technology together with an overview on the findings in this fast-evolving field of science.

Strasser K.,University of Duisburg - Essen | Hoefele J.,Center For Human Genetics And Laboratory Medicine Dr Klein And Dr Rost | Bergmann C.,Center for Human Genetics | Buscher A.K.,University of Duisburg - Essen | And 3 more authors.
Nephrology Dialysis Transplantation | Year: 2012

Alport syndrome (ATS) is a type-IV collagen inherited disorder, caused by mutations in COL4A3 and COL4A4 (autosomal recessive) or COL4A5 (X-linked). Clinical symptoms include progressive renal disease, eye abnormalities and high-tone sensorineural deafness. A renal histology very similar to ATS is observed in a subset of patients affected by mutations in MYH9, encoding non-muscle-myosin Type IIa - a cytoskeletal contractile protein. MYH9-associated disorders (May-Hegglin anomaly, Epstein and Fechtner syndrome, and others) are inherited in an autosomal dominant manner and characterized by defects in different organs (including eyes, ears, kidneys and thrombocytes). We describe here a 6-year-old girl with haematuria, proteinuria, and early sensorineural hearing loss. The father of the patient is affected by ATS, the mother by isolated inner ear deafness. Genetic testing revealed a pathogenic mutation in COL4A5 (c.2605G>A) in the girl and her father and a heterozygous mutation in MYH9 (c.4952T>G) in the girl and her mother. The paternal COL4A5 mutation seems to account for the complete phenotype of ATS in the father and the maternal mutation in MYH9 for the inner ear deafness in the mother. It has been discussed that the interaction of both mutations could be responsible for both the unexpected severity of ATS symptoms and the very early onset of inner ear deafness in the girl. © The Author 2012. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

Hoefele J.,Center For Human Genetics And Laboratory Medicine Dr Klein And Dr Rost | Gabert M.,Center For Human Genetics And Laboratory Medicine Dr Klein And Dr Rost | Heinrich U.,Center For Human Genetics And Laboratory Medicine Dr Klein And Dr Rost | Benz K.,Friedrich - Alexander - University, Erlangen - Nuremberg | And 4 more authors.
European Journal of Medical Genetics | Year: 2012

Renal coloboma syndrome (RCS) is considered to be a rare autosomal dominant inherited disorder characterized by renal malformations and optic disc coloboma. Ocular anomalies range from asymptomatic abnormalities in retinal blood vessel patterning to large excavations of the optic nerve associated with reduced visual acuity. Commonly observed manifestations of the kidney are renal hypoplasia and vesicoureteric reflux leading to end-stage renal disease. Mutations in the PAX2 gene on chromosome 10 have been identified in patients with RCS. Up to date, nucleotide substitutions, insertions, small deletions, one de novo translocation, and one 240 kb deletion of the coding region of the PAX2 gene have been described to be responsible for RCS.We report here a new case of a patient with RCS due to a deletion of 3.8 Mb on chromosome 10q. Deletions on the long arm of chromosome 10 harboring the PAX2 gene seem to be a rare cause for RCS. Nevertheless, array-CGH testing should represent an important and valuable addition to PAX2 gene sequencing in diagnostic of RCS. © 2012 Elsevier Masson SAS.

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