Dataset Information

GSA QCed data

ABSTRACT: QC-ed data of 9,534 DDD Study participants, including 8,879 individuals with inferred GBR ancestry. Details of genotype QC can be found in https://www.medrxiv.org/content/10.1101/2023.04.20.23288860v1.full.pdf. Genome builds are indicated in the file name. Related individuals have not been removed. Of the 9,534 samples there are 3,148 mothers, 3,138 fathers and 3,248 probands, which form 3,099 trios. Of the 8,879 GBR samples, there are 2,931 mothers, 2,937 father and 3,011 probands, which form 2,788 trios. Most of the probands have been previously genoyped on the llumina HumanCoreExome BeadChip (EGAD00010001598) or the Illumina InfiniumCoreExome Beadchip (EGAD00010001600). All samples were genotyped on the Illumina Global Screening Array.

PROVIDER: EGAD00010002568 | 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

Dataset Information

GSA QCed data

Publications

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

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