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EGAS00001002907-2-sc-20190130 - samples

ABSTRACT: Variants and WGS data for Gardner et al. 2018 (biorxiv 471375). One VCF each for Alu, L1, and SVA. Flat text file and WGS for processed pseudogenes.

PROVIDER: EGAD00001004586 | EGA |

REPOSITORIES: EGA

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Publications

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

Houge Gunnar G Haesen Dorien D Vissers Lisenka E L M LE Mehta Sarju S Parker Michael J MJ Wright Michael M Vogt Julie J McKee Shane S Tolmie John L JL Cordeiro Nuno N Kleefstra Tjitske T Willemsen Marjolein H MH Reijnders Margot R F MR Berland Siren S Hayman Eli E Lahat Eli E Brilstra Eva H EH van Gassen Koen L I KL Zonneveld-Huijssoon Evelien E de Bie Charlotte I CI Hoischen Alexander A Eichler Evan E EE Holdhus Rita R Steen Vidar M VM Døskeland Stein Ove SO Hurles Matthew E ME FitzPatrick David R DR Janssens Veerle V

The Journal of clinical investigation 20150713 8

Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of serine/threonine (Ser/Thr) protein phosphatase 2A (PP2A) were identified in 16 individuals with mild to severe ID, long-lasting hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and downslanting palpebral fissures. PP2A comprises catalytic (C), scaffolding (A), and regulatory (B) subunits that determine subcellular ...[more]

PMID: 26168268

Publication: 1/2

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