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Table 2 Genes deleted in DGDP084

From: A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies

Gene

Gene symbol

OMIM#

Remarks

Glycine receptor, alpha 4 subunit

GLRA4

-

Glycine receptors mediate neurotransmission in the spinal cord and brain stem. Human GLRA4 is considered as a pseudogene and has a stop codon before the predicted transmembrane domain (exon 9) [11, 36].

Mortality factor 4 like 2

MORF4L2

300409

May be implicated in cellular senescence like 2 [52]. The mouse homolog (MgrX) is not essential for growth and development [37]

Transcription Elongation Factor A-Like 1

TCEAL1

300237

Nuclear phosphoprotein having 48 % Elongation homology to transcription factor SII factor A-like-1 [53].