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

Characterization of a Novel Mutation in the NADH-Cytochrome b5 Reductase Gene Responsible for Rare Hereditary Methaemoglobinaemia Type I

2013 ◽  
Vol 130 (2) ◽  
pp. 122-125 ◽  
Author(s):  
Katarzyna Rawa ◽  
Liliana Chelmecka-Hanusiewicz ◽  
Danuta Plochocka ◽  
Katarzyna Pawinska-Wasikowska ◽  
Walentyna Balwierz ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Cytochrome B5 ◽  
Type I ◽  
Cytochrome B5 Reductase ◽  
Reductase Gene ◽  
Nadh Cytochrome

scholarly journals Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I

1998 ◽  
Vol 102 (2) ◽  
pp. 575-577 ◽  
Author(s):  
YU-Shui WU ◽  
Chang-Hui Huang ◽  
Yao Wan ◽  
Qiao-Jia Huang ◽  
Zhong-Yong Zhu
Keyword(s):  
Point Mutation ◽  
Cytochrome B5 ◽  
Type I ◽  
Cytochrome B5 Reductase ◽  
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.

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 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

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

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

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 Three Novel Mutations in CYB5R3 Gene Causing NADH-cytochrome b5 Reductase Enzyme Deficiency Leads to Recessive Congenital Methaemoglobinemia

2021 ◽  
Author(s):  
Anuradha Deorukhkar ◽  
Anuja KULKARNI ◽  
Prabhakar S Kedar
Keyword(s):  
Splice Site ◽  
Genetic Disorders ◽  
Cytochrome B5 ◽  
Neurological Impairment ◽  
Enzyme Deficiency ◽  
Type I ◽  
Cytochrome B5 Reductase ◽  
Pathogenic Variants ◽  
Nucleotide Insertion ◽  
Nadh Cytochrome

Abstract Two types of recessive congenital methaemoglobinemia (RCM) is caused by NADH-dependent cytochrome b5 reductase enzyme deficiency encoded by CYB5R3 gene. RCM-I is characterized by higher methaemoglobin levels (>2 g/dL), causing only cyanosis, whereas RCMR-II is associated with cyanosis with neurological impairment. The present study discovered three novel homozygous pathogenic variants of CYB5R3 causing RCM I and II in four unrelated Indian patients. In patient-1 and patient-2 of are of RCM type I caused due to novel c.175C>T (p.Arg59Cys) and other reported c.469T>C (p.Phe157Ser) missense pathogenic variants respectively, whereas patient-3 and patient-4 presented with the RCM type II are related to developmental delay with cyanosis since birth due to a novel homozygous (g.25679_25679delA) splice-site deletion and novel homozygous c.824_825insC (p.Pro278ThrfsTer367) single nucleotide insertion. The CYB5R3 transcript levels were estimated by qRT-PCR in the splice-site deletion, which was 0.33fold of normal healthy control. The insertion of nucleotide C resulted in a frame-shift of termination codon are associated with neurological impairment. This study can help to conduct genetic counselling and, subsequently, prenatal diagnosis of high-risk genetic disorders.

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