Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).
A partial deficiency of Porphobilinogen deaminase (PBGD) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and two previously reported were found in th...
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todo:paper_10981004_v16_n4_p373_DeSiervi2023-10-03T16:06:32Z Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). De Siervi, A. Weiss Cádiz, D.E. Parera, V.E. del C Batlle, A.M. Rossetti, M.V. methionine porphobilinogen deaminase threonine acute intermittent porphyria adolescent adult article child enzymology female gene deletion genetics human male middle aged missense mutation Adolescent Adult Child Female Humans Hydroxymethylbilane Synthase Male Methionine Middle Aged Mutation, Missense Porphyria, Acute Intermittent Sequence Deletion Threonine A partial deficiency of Porphobilinogen deaminase (PBGD) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and two previously reported were found in the PBGD gene in 22 Argentinean AIP patients corresponding to 8 different families. To screen for AIP mutations in symptomatic patients, genomic DNA isolated was amplified in 6 PCR reactions, then all coding exons and flanking intronic regions were sequenced. The novel mutations are 841-843delGGA in exon 14, which results in the loss of glycine-281 (G281del), and one 104C>T point mutation in the exon 4 (T35M). To further characterize both novel mutations, the pKK-PBGD construct for the mutant alleles were expressed in E. coli, the enzymatic activity of the recombinant proteins were 1% and 4% of the mean level expressed by the normal allele for 841-843delGGA and T35M, respectively. Hum Mutat 16:373, 2000. Copyright 2000 Wiley-Liss, Inc. Fil:De Siervi, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Parera, V.E. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:del C Batlle, A.M. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Rossetti, M.V. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_10981004_v16_n4_p373_DeSiervi |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
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Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
methionine porphobilinogen deaminase threonine acute intermittent porphyria adolescent adult article child enzymology female gene deletion genetics human male middle aged missense mutation Adolescent Adult Child Female Humans Hydroxymethylbilane Synthase Male Methionine Middle Aged Mutation, Missense Porphyria, Acute Intermittent Sequence Deletion Threonine |
| spellingShingle |
methionine porphobilinogen deaminase threonine acute intermittent porphyria adolescent adult article child enzymology female gene deletion genetics human male middle aged missense mutation Adolescent Adult Child Female Humans Hydroxymethylbilane Synthase Male Methionine Middle Aged Mutation, Missense Porphyria, Acute Intermittent Sequence Deletion Threonine De Siervi, A. Weiss Cádiz, D.E. Parera, V.E. del C Batlle, A.M. Rossetti, M.V. Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). |
| topic_facet |
methionine porphobilinogen deaminase threonine acute intermittent porphyria adolescent adult article child enzymology female gene deletion genetics human male middle aged missense mutation Adolescent Adult Child Female Humans Hydroxymethylbilane Synthase Male Methionine Middle Aged Mutation, Missense Porphyria, Acute Intermittent Sequence Deletion Threonine |
| description |
A partial deficiency of Porphobilinogen deaminase (PBGD) is responsible for acute intermittent porphyria (AIP). AIP is inherited in an autosomal dominant fashion, and the prevalence in the Argentinean population is about 1:125,000. Here, two new mutations and two previously reported were found in the PBGD gene in 22 Argentinean AIP patients corresponding to 8 different families. To screen for AIP mutations in symptomatic patients, genomic DNA isolated was amplified in 6 PCR reactions, then all coding exons and flanking intronic regions were sequenced. The novel mutations are 841-843delGGA in exon 14, which results in the loss of glycine-281 (G281del), and one 104C>T point mutation in the exon 4 (T35M). To further characterize both novel mutations, the pKK-PBGD construct for the mutant alleles were expressed in E. coli, the enzymatic activity of the recombinant proteins were 1% and 4% of the mean level expressed by the normal allele for 841-843delGGA and T35M, respectively. Hum Mutat 16:373, 2000. Copyright 2000 Wiley-Liss, Inc. |
| format |
JOUR |
| author |
De Siervi, A. Weiss Cádiz, D.E. Parera, V.E. del C Batlle, A.M. Rossetti, M.V. |
| author_facet |
De Siervi, A. Weiss Cádiz, D.E. Parera, V.E. del C Batlle, A.M. Rossetti, M.V. |
| author_sort |
De Siervi, A. |
| title |
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). |
| title_short |
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). |
| title_full |
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). |
| title_fullStr |
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). |
| title_full_unstemmed |
Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M). |
| title_sort |
identification and characterization of two novel mutations that produce acute intermittent porphyria: a 3-base deletion (841-843delgga) and a missense mutation (t35m). |
| url |
http://hdl.handle.net/20.500.12110/paper_10981004_v16_n4_p373_DeSiervi |
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