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Last update

21/6/2017

Gene: mutY homolog; MUTYH

Gene Symbol: MUTYH
OMIM: 604933
Chromosome location: 1p34.1

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Adenomas, multiple colorectal || c.1227_1228dup

Phenotype:	Adenomas, multiple colorectal
Dna Change:	c.1227_1228dup
Protein Change:	p.Glu410GlyfsX43
Mutation Type:	Duplication
Mutation Effect:	Frameshift
Location:	exon 13
Transcript:	NM_001128425.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	5 families/13 families were originally from North Africa	NA	Lefevre JH et al., 2011Lefevre JH, Colas C, Coulet F, Baert-Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier F, Parc Y, . Frequent mutation in North African patients with MUTYH-associated polyposis.. Clin. Genet.. 2011; 80(4):389-93
Morocco	NA	NA	1 family/13 families were originally from North Africa	NA	Lefevre JH et al., 2011Lefevre JH, Colas C, Coulet F, Baert-Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier F, Parc Y, . Frequent mutation in North African patients with MUTYH-associated polyposis.. Clin. Genet.. 2011; 80(4):389-93
Tunisia	NA	NA	4 families/13 families were originally from North Africa	NA	Lefevre JH et al., 2011Lefevre JH, Colas C, Coulet F, Baert-Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier F, Parc Y, . Frequent mutation in North African patients with MUTYH-associated polyposis.. Clin. Genet.. 2011; 80(4):389-93
Tunisia	NA	NA	13 %	NA	Abdelmaksoud-Dammak R et al., 2012Abdelmaksoud-Dammak R, Miladi-Abdennadher I, Amouri A, Tahri N, Ayadi L, Khabir A, Frikha F, Gargouri A, Mokdad-Gargouri R, . High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.. Fam. Cancer. 2012; 11(3):503-8

Adenomas, multiple colorectal || c.933+3A>C

Phenotype:	Adenomas, multiple colorectal
Dna Change:	c.933+3A>C
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 11
Transcript:	NM_001128425.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	North-Eastern	11 patients/11 unrelated families	83 generations ago	Pin E et al., 2013Pin E, Pastrello C, Tricarico R, Papi L, Quaia M, Fornasarig M, Carnevali I, Oliani C, Fornasin A, Agostini M, Maestro R, Barana D, Aretz S, Genuardi M, Viel A, . MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.. Int. J. Cancer. 2013; 132(5):1060-9

Adenomas, multiple colorectal || c.536A>G

Phenotype:	Adenomas, multiple colorectal
Dna Change:	c.536A>G
Protein Change:	p.Tyr179Cys
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 7
Transcript:	NM_001128425.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	NA	6950 years ago (278 generations)	Aretz S et al., 2014Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M, . MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.. Eur. J. Hum. Genet.. 2014; 22(7):923-9

Adenomas, multiple colorectal || c.1187G>A

Phenotype:	Adenomas, multiple colorectal
Dna Change:	c.1187G>A
Protein Change:	p.Gly396Asp
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 13
Transcript:	NM_001128425.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	NA	7500 years ago (300 generations)	Aretz S et al., 2014Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M, . MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.. Eur. J. Hum. Genet.. 2014; 22(7):923-9

References

Abdelmaksoud-Dammak R, Miladi-Abdennadher I, Amouri A, Tahri N, Ayadi L, Khabir A, Frikha F, Gargouri A, Mokdad-Gargouri R, High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis.Fam. Cancer. 2012; 11(3):503-8

Aretz S, Tricarico R, Papi L, Spier I, Pin E, Horpaopan S, Cordisco EL, Pedroni M, Stienen D, Gentile A, Panza A, Piepoli A, de Leon MP, Friedl W, Viel A, Genuardi M, MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.Eur. J. Hum. Genet.. 2014; 22(7):923-9

Lefevre JH, Colas C, Coulet F, Baert-Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier F, Parc Y, Frequent mutation in North African patients with MUTYH-associated polyposis.Clin. Genet.. 2011; 80(4):389-93

Pin E, Pastrello C, Tricarico R, Papi L, Quaia M, Fornasarig M, Carnevali I, Oliani C, Fornasin A, Agostini M, Maestro R, Barana D, Aretz S, Genuardi M, Viel A, MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.Int. J. Cancer. 2013; 132(5):1060-9

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: mutY homolog; MUTYH

References