RGD Reference Report - Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria. - Rat Genome Database

RGD Reference Report - Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria. - Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

General

Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria.
Authors:	Tomie, Y Horie, Y Tajima, F Kitaoka, S Nanba, E Yuasa, I Kawasaki, H
Citation:	Tomie Y, etal., Res Commun Mol Pathol Pharmacol. 1998 Jan;99(1):5-15.
RGD ID:	19165353
Pubmed:	PMID:9523350 (View Abstract at PubMed)
Acute intermittent porphyria (AIP) is an inherited disorder characterized by a deficiency of hydroxymethylbilane synthase (EC 4.3.1.8.; HMBS), the third enzyme in the heme biosynthetic pathway. To date, 113 different HMBS gene mutations have been reported in the world. However, there were a few reports of the gene mutations in the Japanese AIP patients. We studied the gene mutation in two unrelated AIP families in the San-in district, a local area of Western Japan. The overlapping 6 fragments of the HMBS gene, amplified by the reverse transcript-polymerase chain reaction, were analyzed by the single-strand conformation polymorphism with silver staining technique. The abnormal fragment from a member of one family was sequenced to detect the C to T substitution at 517 nucleic acid position of cDNA, which led to a missense mutation of arginine to tryptophan exchange at an amino acid level (R173W). This mutation located in exon 10 created a new site of the MSP 1 restriction endonuclease and was screened by the amplified fragment of exon 10 from genomic DNA with the MSP 1 digestion. The mutation was detected totally in three members of the family and interestingly also in two patients of an unrelated family. This mutation has been reported widely in the world independently, such as in a Swedish, a Canadian, a Finnish, and a French family, but is the first in Japanese patients. The screening method for this mutation is useful for diagnosis in Japanese AIP patients.

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
HMBS	Human	acute intermittent porphyria	susceptibility	IAGP		DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)	RGD
Hmbs	Rat	acute intermittent porphyria	susceptibility	ISO	RGD:733095	DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)	RGD
Hmbs	Mouse	acute intermittent porphyria	susceptibility	ISO	RGD:733095	DNA:missense mutation:exon 10: p.R173W (c.517C>T) (human)	RGD

Genes (Rattus norvegicus)


Hmbs (hydroxymethylbilane synthase)

Genes (Mus musculus)


Hmbs (hydroxymethylbilane synthase)

Genes (Homo sapiens)


HMBS (hydroxymethylbilane synthase)