title: Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.
abstract: 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.
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Bo
authors.initials: B
authors.lastname: Gong
authors.affiliation: Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Liping
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Zhiwei
authors.initials: Z
authors.lastname: Li
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Zimeng
authors.initials: Z
authors.lastname: Ye
authors.affiliation: Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Xiao
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Guangqun
authors.initials: G
authors.lastname: Zeng
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Shi
authors.affiliation: Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Yumeng
authors.initials: Y
authors.lastname: Wang
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Feng
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Xiulan
authors.initials: X
authors.lastname: Li
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Hao
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Xiaoqi
authors.initials: X
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, School of Medicine, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Qu
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Yuanfeng
authors.initials: Y
authors.lastname: Li
authors.affiliation: Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Guoying
authors.initials: G
authors.lastname: Mu
authors.affiliation: Sichuan Provincial Key Laboratory for Disease Gene Study, Sichuan Academy of Medical Sciences &Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D003541:Cystathionine beta-Synthase / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D023061:Gene Order; D056726:Genetic Association Studies; D006579:Heterozygote; D006712:Homocystinuria / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016415:Sequence Alignment; D055815:Young Adult
chemical_list: D003541:Cystathionine beta-Synthase