THAP11 mutations in a patient with a cblX-like phenotype implicates THAP11 in the regulation of cobalamin metabolism and early vertebrate development

Study ID Alternative Stable ID Type
EGAS00001002201 Other

Study Description

Mutations in HCFC1 are associated with cblX (MIM309541), an X-linked recessive disorder, characterized by defects in cobalamin metabolism and other developmental defects. HCFC1 is a transcriptional co-regulator, which interacts with transcription factors to regulate the expression of a myriad of genes. Notably, HCFC1 regulates cobalamin metabolism via the regulation of MMACHC expression through its interaction with THAP11, a THAP domain-containing transcription factor. In addition, the HCFC1/THAP11 complex potentially regulates genes involved in diverse cellular functions including cell cycle, proliferation, and transcription. Thus, it is likely that mutations in THAP11 may also result in biochemical and other phenotypes similar to those observed in patients with cblX. We report a patient who presented with phenotypic features that overlap cblX, but did not have any mutations in either MMACHC or HCFC1. We sequenced THAP11 by Sanger sequencing and discovered a potentially pathogenic, homozygous variant in THAP11, c.240C>G (p.Phe80Leu). Functional analysis in the developing ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
RNA sequencing of 31 patient-derived fibroblast cell lines from patients with inborn errors of cobalamin (vitamin B12) metabolism, and 7 control samples. The RNA seq library was prepared using the TruSeq Stranded Total RNA Sample Preparation Kit (Illumina RS-122–2301) including Ribo-Zero Gold depletion to remove ribosomal RNA. Sequencing was done via llumina Hi-Seq2000 sequencer, using 100bp paired end reads.
Illumina HiSeq 1500,Illumina HiSeq 2000 38

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