A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria

1997 ◽  
Vol 99 (2) ◽  
pp. 199-201 ◽  
Author(s):  
M. Daimon ◽  
Eishirou Gojyou ◽  
Makoto Sugawara ◽  
Keiichi Yamatani ◽  
Makoto Tominaga ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Oxidase Gene ◽  
Coproporphyrinogen Oxidase ◽  
Hereditary Coproporphyria ◽  
Exon 4

In frame deletion of glycin 390 in coproporphyrinogen oxidase gene as a cause of hereditary coproporphyria

2001 ◽  
Vol 34 ◽  
pp. 223-224
Author(s):  
R. Rosipal ◽  
E. Malonova ◽  
J. Zeman ◽  
J. Deybach ◽  
J. Lamoril ◽  
...  
Keyword(s):  
Oxidase Gene ◽  
Coproporphyrinogen Oxidase ◽  
Hereditary Coproporphyria

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria

1995 ◽  
Vol 4 (2) ◽  
pp. 275-278 ◽  
Author(s):  
Jérôme Lamoril ◽  
Pavel Martasek ◽  
Jean-Charles Deybach ◽  
Vasco Da Silva ◽  
Bernard Grandchamp ◽  
...  
Keyword(s):  
Molecular Defect ◽  
Variant Form ◽  
Oxidase Gene ◽  
Coproporphyrinogen Oxidase ◽  
Hereditary Coproporphyria

A Novel Missense Mutation in the Endoglin Gene in Hereditary Hemorrhagic Telangiectasia

1997 ◽  
Vol 77 (02) ◽  
pp. 243-247 ◽  
Author(s):  
Hiroshi Yamaguchi ◽  
Hiroyuki Azuma ◽  
Toshio Shigekiyo ◽  
Hideo Inoue ◽  
Shiro Saito
Keyword(s):  
Missense Mutation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Transforming Growth Factor ◽  
Transforming Growth Factor Β ◽  
Autosomal Dominant Disorder ◽  
Her Family ◽  
Normal Individuals ◽  
Oligonucleotide Hybridization ◽  
Vascular Dysplasia ◽  
Exon 4

SummaryHereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by multisystem vascular dysplasia and recurrent hemorrhage. Recent investigation has mapped one of the responsible genes for HHT to chromosome 9q33-q34; subsequently, nine different mutations have been identified in the endoglin gene, which encodes a transforming growth factor β(TGF-β) binding protein, in nine unrelated families with HHT. We examined the endoglin gene in a Japanese patient with HHT and her family members. Using PCR-SSCP. analysis followed by sequencing, we identified a C to A missense mutation in exon 4 which changed an Ala160 codon(GCT) to an Asp160 codon (GAT). Since this mutation destroys one of three Fnu4H I sites in exon 4, the Fnu4H I digestion patterns of the PCR-amplified exon 4 fragments from each family member were analyzed. In affected members, the restriction patterns were all consistent with a phenotype of HHT. PCR-amplified exon 4 fragments from 150 normal individuals were also analyzed by allele-specific oligonucleotide hybridization analysis. As a result, the mutation was not found in any of them. We conclude that the C to A mutation in exon 4 of the endoglin gene in this proband is responsible for the occurrence of HHT in this family.

scholarly journals Hereditary cataract of the Nakano mouse: Involvement of a hypomorphic mutation in the coproporphyrinogen oxidase gene

2013 ◽  
Vol 112 ◽  
pp. 45-50 ◽  
Author(s):  
Masayuki Mori ◽  
Saki Gotoh ◽  
Shigeru Taketani ◽  
Hiroshi Hiai ◽  
Keiichi Higuchi
Keyword(s):  
Oxidase Gene ◽  
Hypomorphic Mutation ◽  
Coproporphyrinogen Oxidase
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