Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder.
Eur J Med Genet
; 58(3): 148-53, 2015 Mar.
Article
em En
| MEDLINE
| ID: mdl-25595573
ABSTRACT
The cobalamin type C deficiency is a rare condition that results from impaired biosynthesis of both methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl). Hemizygous mutations of the HCFC1 gene explain the majority of clinically and biologically compatible cblC patients without MMACHC mutations (OMIM 309541). We report a family with two maternal half-brothers with multiple congenital anomalies and HCFC1 gene mutation in the second Kelch domain. Both presented with dysmorphic features (flat profile, cleft lip for one), increased nuchal translucency, prenatal onset microcephaly and hypospadias. Additionally to early onset intractable epilepsy and profound neurocognitive impairment, this familial observation suggests that HCFC1 gene should be considered in boys with midline malformations, even without proven cobalamin C deficiency.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Deficiência de Vitamina B 12
/
Fator C1 de Célula Hospedeira
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article