Abstract | BACKGROUND: METHODS: Genomic DNA was extracted from peripheral blood collected from a diagnosed Filipino patient with classic homocystinuria. The entire coding region of CBS (17 exons) was amplified using polymerase chain reaction and bidirectionally sequenced using standard protocols. RESULTS: The patient was found to be compound heterozygous for two novel mutations, g.13995G>A [c.982G>A; p.D328K] and g.15860-15868dupGCAGGAGCT [c.1083-1091dupGCAGGAGCT; p. Q362-L364dupQEL]. Four known single-nucleotide polymorphisms (rs234706, rs1801181, rs706208 and rs706209) were also detected in the present patient's CBS. The patient was heterozygous for all the identified alleles. CONCLUSIONS: This is the first mutational analysis of CBS done in a Filipino patient with classic homocystinuria who presented with a novel duplication mutation and a novel missense mutation. Homocystinuria due to CBS deficiency is a heterogeneous disorder at the molecular level.
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Authors | Catherine Lynn T Silao, Terence Diane F Fabella, Kahlil Izza D Rama, Sylvia C Estrada |
Journal | Pediatrics international : official journal of the Japan Pediatric Society
(Pediatr Int)
Vol. 57
Issue 5
Pg. 884-7
(Oct 2015)
ISSN: 1442-200X [Electronic] Australia |
PMID | 25939784
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2015 Japan Pediatric Society. |
Chemical References |
- DNA
- Cystathionine beta-Synthase
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Topics |
- Adolescent
- Alleles
- Cystathionine beta-Synthase
(genetics, metabolism)
- DNA
(genetics)
- DNA Mutational Analysis
- Female
- Genotype
- Homocystinuria
(enzymology, genetics)
- Humans
- Mutation
- Philippines
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