Premium
Novel cystathionine β‐synthase gene mutations in a Filipino patient with classic homocystinuria
Author(s) -
Silao Catherine Lynn T.,
Fabella Terence Diane F.,
Rama Kahlil Izza D.,
Estrada Sylvia C.
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12666
Subject(s) - homocystinuria , cystathionine beta synthase , missense mutation , medicine , ectopia lentis , genetics , exon , compound heterozygosity , gene , mutation , biology , methionine , marfan syndrome , amino acid
Abstract Background Classic homocystinuria due to cystathionine β‐synthase (CBS) deficiency is an autosomal recessive disorder of sulfur metabolism. Clinical manifestations include mental retardation, dislocation of the optic lens (ectopia lentis), skeletal abnormalities and a tendency to thromboembolic episodes. We present the first mutational analysis of CBS in a Filipino patient with classic homocystinuria. 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.