scholarly journals Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: Compound heterozygous for NADH-cytochrome b5 reductase gene mutations

2011 ◽  
Vol 86 (3) ◽  
pp. 327-329 ◽  
Author(s):  
Prabhakar S. Kedar ◽  
Prashant Warang ◽  
Kanjaksha Ghosh ◽  
Roshan B. Colah
Keyword(s):  
Mental Retardation ◽  
Cytochrome B5 ◽  
Gene Mutations ◽  
Compound Heterozygous ◽  
Severe Mental Retardation ◽  
Cytochrome B5 Reductase ◽  
Indian Patients ◽  
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

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

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

Compound heterozygosity of two missense mutations in the NADH-cytochrome b5 reductase gene of a Polish patient with type I recessive congenital methaemoglobinaemia

2003 ◽  
Vol 70 (6) ◽  
pp. 404-409 ◽  
Author(s):  
Dorota Grabowska ◽  
Danuta Plochocka ◽  
Ewa Jablonska-Skwiecinska ◽  
Anna Chelstowska ◽  
Irmina Lewandowska ◽  
...  
Keyword(s):  
Cytochrome B5 ◽  
Type I ◽  
Missense Mutations ◽  
Compound Heterozygosity ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Nadh Cytochrome ◽  
Polish Patient
Sign in / Sign up

Export Citation Format

Share Document