Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder
| Autor: | J.-F. Benoist, Marion Gérard, H. Ogier de Baulny, T. Billette de Villemeur, S. Mathieu, D. Rabier, Cindy Colson, Gilles Morin, Agnès Bourillon |
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| Rok vydání: | 2014 |
| Předmět: |
Male
medicine.medical_specialty Microcephaly Cleft Lip Gene mutation Biology Bioinformatics Cobalamin chemistry.chemical_compound Internal medicine Genetics medicine Humans Abnormalities Multiple Genetic Testing Increased nuchal translucency Genetics (clinical) Comparative Genomic Hybridization Vitamin B 12 Deficiency General Medicine medicine.disease MMACHC Adenosylcobalamin Vitamin B 12 Endocrinology chemistry Child Preschool Karyotyping Methylcobalamin Mutation Cobamides CBLC Carrier Proteins Oxidoreductases Host Cell Factor C1 medicine.drug |
| Zdroj: | European journal of medical genetics. 58(3) |
| ISSN: | 1878-0849 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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