Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH-cytochrome b5 reductase gene

1997 ◽  
Vol 20 (4) ◽  
pp. 610-610 ◽  
Author(s):  
E. P. Owen ◽  
J. Berens ◽  
A. M. Marinaki ◽  
H. Ipp ◽  
E. H. Harley
Keyword(s):  
Cytochrome B5 ◽  
Type Ii ◽  
New Mutation ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Nadh Cytochrome

Prenatal diagnosis of recessive congenital methaemoglobinaemia type II: novel mutation in the NADH-cytochrome b5 reductase gene leading to stop codon read-through

2005 ◽  
Vol 74 (5) ◽  
pp. 389-395 ◽  
Author(s):  
Alena Leroux ◽  
France Leturcq ◽  
Nathalie Deburgrave ◽  
Marie-France Szajnert
Keyword(s):  
Prenatal Diagnosis ◽  
Stop Codon ◽  
Novel Mutation ◽  
Cytochrome B5 ◽  
Type Ii ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Nadh Cytochrome

scholarly journals A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II

2015 ◽  
Vol 5 ◽  
pp. 44-47 ◽  
Author(s):  
Prashant Warang ◽  
Prabhakar Kedar ◽  
S. Sivanandam ◽  
K. Jothilakshmi ◽  
R. Sumathi ◽  
...  
Keyword(s):  
Cytochrome B5 ◽  
Deletion Mutation ◽  
Type Ii ◽  
Cytochrome B5 Reductase ◽  
Indian Family ◽  
Reductase Gene ◽  
Nadh Cytochrome

scholarly journals Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II

Blood ◽  
1995 ◽  
Vol 85 (8) ◽  
pp. 2254-2262 ◽  
Author(s):  
LM Vieira ◽  
JC Kaplan ◽  
A Kahn ◽  
A Leroux
Keyword(s):  
Stop Codon ◽  
Cytochrome B5 ◽  
Premature Stop Codon ◽  
Gene Mutations ◽  
Type I ◽  
Type Ii ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Membrane Bound ◽  
Nadh Cytochrome

Recessive congenital methemoglobinemia (RCM) due to NADH-cytochrome b5 reductase (cytb5r) deficiency leads to two different types of diseases. In the type I form, cyanosis is the only symptom, and the soluble enzyme is defective in red blood cells. In the type II form, cyanosis is associated with severe mental retardation and neurologic impairment; the enzymatic defect is systemic, involving both soluble and membrane-bound isoforms. We characterized mutations responsible for cytb5r deficiency in three unrelated patients with severe RCM type II. The first patient presented a homozygous exon 5 skipping. The only mutation detected was a homozygous G to C transversion at position +8, downstream from the 5′ splice site of exon 5. We suggest that this unusual mutation might be responsible for the abnormal splicing of the primary transcripts, resulting in frameshift with premature STOP codon. The second mutation found corresponds to a homozygous C to T transition changing the Arg-218 codon to a premature STOP codon in exon 8. The third case was a compound heterozygote, carrying two different mutant alleles in the cyb5r gene. One allele presented a missense mutation with replacement of Cys-203 (TGC) by Arg (CGC) in exon 7. The second allele carried a 3-bp deletion (TGA) of nucleotides 815 to 817, modifying two contiguous codons in exon 9 of the cDNA with loss of Met-272. These results confirm the genetic polymorphism of cytb5r gene mutations identified in RCM type II, as observed for the mutations described in the RCM type I, and shed light on the molecular bases of the two different diseases associated with cytb5r deficiency.

scholarly journals Familial Congenital Methemoglobinemia in Pomeranian Dogs Caused by a Missense Variant in the NADH-Cytochrome B5 Reductase Gene

2018 ◽  
Vol 32 (1) ◽  
pp. 165-171 ◽  
Author(s):  
H. Shino ◽  
Y. Otsuka-Yamasaki ◽  
T. Sato ◽  
K. Ooi ◽  
O. Inanami ◽  
...  
Keyword(s):  
Cytochrome B5 ◽  
Missense Variant ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Nadh Cytochrome

Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene

Hemoglobin ◽  
2015 ◽  
Vol 39 (6) ◽  
pp. 438-441 ◽  
Author(s):  
Alexandra Forestier ◽  
Serge Pissard ◽  
Justine Cretet ◽  
Adeline Mambie ◽  
Laurent Pascal ◽  
...  
Keyword(s):  
Cytochrome B5 ◽  
New Mutation ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene

The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene

Gene ◽  
1989 ◽  
Vol 80 (2) ◽  
pp. 353-361 ◽  
Author(s):  
Tomatsu Shunji ◽  
Kobayashi Yasushi ◽  
Fukumaki Yasuyuki ◽  
Yubisui Toshitsugu ◽  
Orii Tadao ◽  
...  
Keyword(s):  
Nucleotide Sequence ◽  
Complete Nucleotide Sequence ◽  
Cytochrome B5 ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Nadh Cytochrome

Identification and expression analysis of NADH-cytochrome b5 reductase gene in the cotton bollworm, Helicoverpa armigera

Gene ◽  
2012 ◽  
Vol 511 (1) ◽  
pp. 96-102 ◽  
Author(s):  
Chunqing Zhao ◽  
Tao Tang ◽  
Jiqin Liu ◽  
Xiaoyun Feng ◽  
Lihong Qiu
Keyword(s):  
Expression Analysis ◽  
Helicoverpa Armigera ◽  
Cytochrome B5 ◽  
Cotton Bollworm ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Helicoverpa Armígera ◽  
Nadh Cytochrome

A novel G143D mutation in the NADH-cytochrome b5 reductase gene in an Indian patient with type I recessive hereditary methemoglobinemia

2008 ◽  
Vol 40 (3) ◽  
pp. 323-327 ◽  
Author(s):  
Prabhakar S. Kedar ◽  
Prashant Warang ◽  
Anita H. Nadkarni ◽  
Roshan B. Colah ◽  
Kanjaksha Ghosh
Keyword(s):  
Cytochrome B5 ◽  
Type I ◽  
Indian Patient ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Nadh Cytochrome

Characterization of the second form of NADH-Cytochrome b5 reductase gene from arachidonic acid-producing fungus Mortierella alpina 1S-4

1999 ◽  
Vol 88 (6) ◽  
pp. 667-671 ◽  
Author(s):  
Milan Certik ◽  
Eiji Sakuradani ◽  
Michihiko Kobayashi ◽  
Sakayu Shimizu
Keyword(s):  
Arachidonic Acid ◽  
Cytochrome B5 ◽  
Mortierella Alpina ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Nadh Cytochrome
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