Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients

HCFC1, a global transcriptional regulator, has been shown to associate with MMACHC expression. Pathogenic variants in HCFC1 cause X-linked combined methylmalonic acidemia and hyperhomocysteinemia, CblX type (MIM# 309541). Recent studies showed that certain variants in HCFC1 are associated with X-lin...

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Veröffentlicht in:	Journal of human genetics 2021-07, Vol.66 (7), p.717-724
Hauptverfasser:	Wongkittichote, Parith, Wegner, Daniel J, Shinawi, Marwan S
Format:	Artikel
Sprache:	eng
Schlagworte:	Females Genotypes Hyperhomocysteinemia Intellectual disabilities Metabolism Phenotypes Transcription Vitamin B12
Online-Zugang:	Volltext
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