Both gain-and loss-of-function mutations have recently implicated HCFC1 in
neurodevelopmental disorders. Here, we extend our previous HCFC1 over-expression …

Mutations in the HCFC1 gene are associated with cases of syndromic (cblX) and non-
syndromic intellectual disability. Syndromic individuals present with severe neurological …

Derivatives of vitamin B 12 (cobalamin) are essential cofactors for enzymes required in
intermediary metabolism. Defects in cobalamin metabolism lead to disorders characterized …

The discovery of mutations causing human disease has so far been biased toward protein-
coding regions. Having excluded all annotated coding regions, we performed targeted …

CblX (MIM309541) is an X-linked recessive disorder characterized by defects in cobalamin
(vitamin B12) metabolism and other developmental defects. Mutations in HCFC1, a …

Abstract Approximately 10-15% of intellectual disability (ID) cases are caused by genetic
aberrations affecting chromosome X, a condition termed X‑linked ID (XLID). Examination by …

HCFC1, a global transcriptional regulator, has been shown to associate with MMACHC
expression. Pathogenic variants in HCFC1 cause X-linked combined methylmalonic …

Background Autosomal recessive or X-linked inborn errors of intracellular cobalamin
metabolism can lead to methylmalonic aciduria and homocystinuria. In neonates, both …

Abstract Mutations in HCFC1 (MIM300019), have been recently associated with cblX
(MIM309541), an X-linked, recessive disorder characterized by multiple congenital …

The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis
of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations …