Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation

Xiao Fei Kong; Yue Han; Xin Hua Li; De Yong Gao; Xin Xin Zhang; Qi Ming Gong

doi:10.1016/j.gene.2013.03.130

Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation

Xiao Fei Kong, Yue Han, Xin Hua Li, De Yong Gao, Xin Xin Zhang, Qi Ming Gong

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

Abstract

We report here the case of a 32-year-old Chinese Han woman who presented with frequent severe abdominal pain, convulsion, numbness and confusion. She also had hypertension, hyponatremia, chronic renal failure, anemia and a high urinary δ-aminolevulinic acid concentration. We identified a heterozygous splicing mutation in intron 11 (IVS11-2A. →. G) of the porphobilinogen (PBG) deaminase gene (. PBGD) in her genomic DNA. This mutation had previously been reported in a North American patient, but was absent from 50 healthy Chinese controls.

Original language	English (US)
Pages (from-to)	401-402
Number of pages	2
Journal	Gene
Volume	524
Issue number	2
DOIs	https://doi.org/10.1016/j.gene.2013.03.130
State	Published - Jul 25 2013
Externally published	Yes

Keywords

Acute intermittent porphyria
Porphobilinogen (PBG) deaminase

ASJC Scopus subject areas

Genetics

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10.1016/j.gene.2013.03.130

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title = "Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation",

abstract = "We report here the case of a 32-year-old Chinese Han woman who presented with frequent severe abdominal pain, convulsion, numbness and confusion. She also had hypertension, hyponatremia, chronic renal failure, anemia and a high urinary δ-aminolevulinic acid concentration. We identified a heterozygous splicing mutation in intron 11 (IVS11-2A. →. G) of the porphobilinogen (PBG) deaminase gene (. PBGD) in her genomic DNA. This mutation had previously been reported in a North American patient, but was absent from 50 healthy Chinese controls.",

keywords = "Acute intermittent porphyria, Porphobilinogen (PBG) deaminase",

author = "Kong, {Xiao Fei} and Yue Han and Li, {Xin Hua} and Gao, {De Yong} and Zhang, {Xin Xin} and Gong, {Qi Ming}",

note = "Funding Information: Dr. KONG X.F. was supported by the Shanghai Educational Development Foundation ( 2007CG20 ), the Shanghai Municipal Health Bureau and the National Natural Science Foundation of China (No. 30800612 ) for the study of porphyrias. ",

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doi = "10.1016/j.gene.2013.03.130",

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T1 - Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation

AU - Kong, Xiao Fei

AU - Han, Yue

AU - Li, Xin Hua

AU - Gao, De Yong

AU - Zhang, Xin Xin

AU - Gong, Qi Ming

N1 - Funding Information: Dr. KONG X.F. was supported by the Shanghai Educational Development Foundation ( 2007CG20 ), the Shanghai Municipal Health Bureau and the National Natural Science Foundation of China (No. 30800612 ) for the study of porphyrias.

PY - 2013/7/25

Y1 - 2013/7/25

N2 - We report here the case of a 32-year-old Chinese Han woman who presented with frequent severe abdominal pain, convulsion, numbness and confusion. She also had hypertension, hyponatremia, chronic renal failure, anemia and a high urinary δ-aminolevulinic acid concentration. We identified a heterozygous splicing mutation in intron 11 (IVS11-2A. →. G) of the porphobilinogen (PBG) deaminase gene (. PBGD) in her genomic DNA. This mutation had previously been reported in a North American patient, but was absent from 50 healthy Chinese controls.

AB - We report here the case of a 32-year-old Chinese Han woman who presented with frequent severe abdominal pain, convulsion, numbness and confusion. She also had hypertension, hyponatremia, chronic renal failure, anemia and a high urinary δ-aminolevulinic acid concentration. We identified a heterozygous splicing mutation in intron 11 (IVS11-2A. →. G) of the porphobilinogen (PBG) deaminase gene (. PBGD) in her genomic DNA. This mutation had previously been reported in a North American patient, but was absent from 50 healthy Chinese controls.

KW - Acute intermittent porphyria

KW - Porphobilinogen (PBG) deaminase

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Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation

Abstract

Keywords

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