A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

Autor: Cobben JM; Dpt of Pediatrics and Clinical Genetics, AMC University Hospital, Amsterdam, The Netherlands; Dpt of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. Electronic address: j.m.cobben@amc.uva.nl., Weiss MM; Dpt of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., van Dijk FS; Dpt of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., De Reuver R; Dpt of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., de Kruiff C; Dpt of Pediatrics and Clinical Genetics, AMC University Hospital, Amsterdam, The Netherlands., Pondaag W; Dpt of Neurosurgery, LUMC University Hospital, Leiden, The Netherlands., Hennekam RC; Dpt of Pediatrics and Clinical Genetics, AMC University Hospital, Amsterdam, The Netherlands., Yntema HG; Dpt of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Jazyk: angličtina
Zdroj: European journal of medical genetics [Eur J Med Genet] 2014 Nov-Dec; Vol. 57 (11-12), pp. 636-8. Date of Electronic Publication: 2014 Sep 30.
DOI: 10.1016/j.ejmg.2014.09.002
Abstrakt: We report a boy with severe syndromic intellectual disability who has a de novo mutation in the ZMYND11 gene. Arguments for pathogenicity of this mutation are found in cases from the literature, especially several with 10p15.3 deletions, harbouring ZMYND11. Additional reports of ZMYND11 mutations in cases with syndromic intellectual disability are needed before the ZMYND11 mutation identified in our case can be considered as definitely pathogenic.
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Databáze: MEDLINE