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Verfasst von:Tzschach, Andreas [VerfasserIn]   i
 Evers, Christina [VerfasserIn]   i
 Moog, Ute [VerfasserIn]   i
Titel:Next-generation sequencing in X-linked intellectual disability
Verf.angabe:Andreas Tzschach, Ute Grasshoff, Stefanie Beck-Woedl, Claudia Dufke, Claudia Bauer, Martin Kehrer, Christina Evers, Ute Moog, Barbara Oehl-Jaschkowitz, Nataliya Di Donato, Robert Maiwald, Christine Jung, Alma Kuechler, Solveig Schulz, Peter Meinecke, Stephanie Spranger, Jürgen Kohlhase, Jörg Seidel, Silke Reif, Manuela Rieger, Angelika Riess, Marc Sturm, Julia Bickmann, Christopher Schroeder, Andreas Dufke, Olaf Riess and Peter Bauer
Umfang:6 S.
Fussnoten:Gesehen am 05.04.2018
Titel Quelle:Enthalten in: European journal of human genetics
Jahr Quelle:2015
Band/Heft Quelle:23(2015), 11, S. 1513-1518
ISSN Quelle:1476-5438
Abstract:X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than 100 genes known to date. Most genes are responsible for a small proportion of patients only, which has hitherto hampered the systematic screening of large patient cohorts. We performed targeted enrichment and next-generation sequencing of 107 XLID genes in a cohort of 150 male patients. Hundred patients had sporadic intellectual disability, and 50 patients had a family history suggestive of XLID. We also analysed a sporadic female patient with severe ID and epilepsy because she had strongly skewed X-inactivation. Target enrichment and high parallel sequencing allowed a diagnostic coverage of >10 reads for ~96% of all coding bases of the XLID genes at a mean coverage of 124 reads. We found 18 pathogenic variants in 13 XLID genes (AP1S2, ATRX, CUL4B, DLG3, IQSEC2, KDM5C, MED12, OPHN1, SLC9A6, SMC1A, UBE2A, UPF3B and ZDHHC9) among the 150 male patients. Thirteen pathogenic variants were present in the group of 50 familial patients (26%), and 5 pathogenic variants among the 100 sporadic patients (5%). Systematic gene dosage analysis for low coverage exons detected one pathogenic hemizygous deletion. An IQSEC2 nonsense variant was detected in the female ID patient, providing further evidence for a role of this gene in encephalopathy in females. Skewed X-inactivation was more frequently observed in mothers with pathogenic variants compared with those without known X-linked defects. The mutation rate in the cohort of sporadic patients corroborates previous estimates of 5–10% for X-chromosomal defects in male ID patients.
DOI:doi:10.1038/ejhg.2015.5
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Verlag: http://dx.doi.org/10.1038/ejhg.2015.5
 Verlag: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613482
 DOI: https://doi.org/10.1038/ejhg.2015.5
Datenträger:Online-Ressource
Sprache:eng
K10plus-PPN:1571746986
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