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MED13L truncating mutation and missense mutation were identified in two patients with facial resemblance to Kleefstra syndrome as a novel differential diagnosis.
A new syndrome caused by MED13L deleterious variants has been described, which shows similar clinical manifestations including intellectual disability, hypotonia, and other congenital anomalies. In two new cases, one missense variant and one nonsense mutation were found in the MED13L gene.
Two siblings exhibited an intragenic deletion involving exons 3-14, which led to an in-frame deletion in MED13L. The deletion was inherited from their carrier mother who possessed low frequency mosaicism. The older sister of the siblings showed craniosynostosis; this condition has never been reported in patients with MED13L haploinsufficiency syndrome
Heterozygous MED13L variants cause transposition of the great arterie.
Analysis of genomic data in connection with deep clinical evaluation of patients could elucidate genetic heterogeneity of the MED13L haploinsufficiency phenotype
A meta-analysis of genome-wide association studies of blood pressure and hypertension in Chinese identified three new loci (CACNA1D (显示 CACNA1D ELISA试剂盒), CYP21A2 (显示 CYP21A2 ELISA试剂盒), and MED13L) and a newly discovered variant near SLC4A7 (显示 SLC4A7 ELISA试剂盒).
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.
Description of three patients with copy number changes affecting MED13L and delineation of a recognizable MED13L haploinsufficiency syndrome.
We show that the Mediator complex subunit MED13L is required for Rb/E2F (显示 E2F1 ELISA试剂盒) control of cell growth, the complete repression of cell cycle target genes, and cell cycle inhibition.
PROSIT240 shows significant homology to the nuclear receptor coactivator TRAP240 (显示 MED13 ELISA试剂盒), suggesting it to be a new component of the thyroid hormone receptor (显示 THRA ELISA试剂盒)-associated protein (显示 BCAP31 ELISA试剂盒) (TRAP) complex. PROSIT240 is involved in early heart and brain development.
The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The encoded protein is involved in early development of the heart and brain. Defects in this gene are a cause of transposition of the great arteries, dextro-looped (DTGA).
mediator of RNA polymerase II transcription subunit 13-like
, thyroid hormone receptor-associated protein 2
, thyroid hormone receptor-associated protein complex 240 kDa component-like
, thyroid hormone receptor associated protein 2
, thyroid hormone receptor-associated 240-like protein