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The  cystathionine β-synthase  ( CBS ) gene has been shown to be related to homocystinuria. This study was aimed to detect the mutations in  CBS  in a Han Chinese family with homocystinuria. A four-generation family from Shandong Province of China was recruited in this study. All available members of the family underwent comprehensive medical examinations. Genomic DNA was collected from peripheral blood of all the participants. The coding sequence of  CBS  was amplified by polymerase chain reaction (PCR), followed by direct DNA sequencing. Among all the family members, three affected individuals showed typical clinical features of homocystinuria. Two novel compound heterozygous mutations in the  CBS  gene, c.407T > C (p. L136P) and c.473C > T (p.A158V), were identified by sequencing analysis in this family. Both of the two missense mutations were detected in the three patients. Other available normal individuals, including the patients’ parents, grand parents, her younger sister and brother in this family either carried one of the two mutations, or none. In addition, the two mutations were not found in 600 ethnically matched normal controls. This study provides a mutation spectrum of  CBS  resulting in homocystinuriain a Chinese population, which may shed light on the molecular pathogenesis and clinical diagnosis of  CBS -associated homocystinuria.

Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family