title: A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.
abstract: Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme of the heme biosynthetic pathway. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly. Genetic testing provides a precise diagnosis for the patient and other asymptomatic family members, and thereby proper treatments can be initiated to prevent the disease from progressing. In this study, we report a novel PBGD missense mutation, A G-to-C, at the position 988 resulting in Alanine to Proline (Ala330Pro), in a Chinese family.
authors: Department of Emergency medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China. Electronic address: yangbujing@126.com.
authors: Jing
authors: J
authors: Yang
authors: State Key Laboratory of Cardiovascular Disease, Center of Molecular Diagnostics, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors: Honglian
authors: H
authors: Wang
authors: State Key Laboratory of Cardiovascular Disease, Center of Molecular Diagnostics, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors: Kunlun
authors: K
authors: Yin
authors: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors: Baolai
authors: B
authors: Hua
authors: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors: Tienan
authors: T
authors: Zhu
authors: Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors: Yongqiang
authors: Y
authors: Zhao
authors: Department of Emergency medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors: Shubin
authors: S
authors: Guo
authors: Department of Emergency medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors: Xuezhong
authors: X
authors: Yu
authors: Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
authors: Wei
authors: W
authors: Wu
authors: State Key Laboratory of Cardiovascular Disease, Center of Molecular Diagnostics, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, China. Electronic address: fwcomd@126.com.
authors: Zhou
authors: Z
authors: Zhou
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D055815:Young Adult
chemical_list: D011163:Hydroxymethylbilane Synthase
keywords: Acute intermittent porphyria; Genetic testing; PBGD (or HMBS) gene