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Gene. 2015 Jul 10;565(2):288-90. doi: 10.1016/j.gene.2015.04.027. Epub 2015 Apr 11.

A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.

Author information

1
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.
2
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.
3
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
4
Department of Emergency medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
5
Department of Clinical Laboratory, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, China.
6
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.

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.

KEYWORDS:

Acute intermittent porphyria; Genetic testing; PBGD (or HMBS) gene

PMID:
25870942
DOI:
10.1016/j.gene.2015.04.027
[Indexed for MEDLINE]

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