MYH-associated polyposis (MAP) is a recently described autosomal recessive form of familial adenomatous polyposis (FAP) associated with susceptibility to colorectal carcinoma (CRC). MAP is caused by biallelic inactivating mutations of the MYH gene, a component of the base excision repair (BER) machinery, whose dysfunction leads to an increase in the rate of G > T transversions following DNA oxidative damage. MAP patients can present with either classic or attenuated polyposis. However, the MAP colonic and extra-colonic phenotype has yet to be defined. We report on two siblings, born from consanguineous parents, who were found to be homozygotes for an MYH frameshift mutation. The propositus presented with a low number of colonic lesions and an early-onset CRC. Both siblings had a history of pilomatricomas, benign tumors derived from hair follicles, in childhood. The findings presented provide further evidence of phenotypic variability in MAP, and suggest that multiple pilomatricomas may be a useful cutaneous marker of MAP.

A kindred with MYH-associated polyposis and pilomatricomas / Silvana Baglioni; German Melean; Francesca Gensini; Marco Santucci; Marco Scatizzi; Laura Papi; Maurizio Genuardi. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - STAMPA. - 134A:(2005), pp. 212-214. [10.1002/ajmg.a.30585]

A kindred with MYH-associated polyposis and pilomatricomas.

BAGLIONI, SILVANA;GENSINI, FRANCESCA;SANTUCCI, MARCO;PAPI, LAURA;GENUARDI, MAURIZIO
2005

Abstract

MYH-associated polyposis (MAP) is a recently described autosomal recessive form of familial adenomatous polyposis (FAP) associated with susceptibility to colorectal carcinoma (CRC). MAP is caused by biallelic inactivating mutations of the MYH gene, a component of the base excision repair (BER) machinery, whose dysfunction leads to an increase in the rate of G > T transversions following DNA oxidative damage. MAP patients can present with either classic or attenuated polyposis. However, the MAP colonic and extra-colonic phenotype has yet to be defined. We report on two siblings, born from consanguineous parents, who were found to be homozygotes for an MYH frameshift mutation. The propositus presented with a low number of colonic lesions and an early-onset CRC. Both siblings had a history of pilomatricomas, benign tumors derived from hair follicles, in childhood. The findings presented provide further evidence of phenotypic variability in MAP, and suggest that multiple pilomatricomas may be a useful cutaneous marker of MAP.
2005
134A
212
214
Silvana Baglioni; German Melean; Francesca Gensini; Marco Santucci; Marco Scatizzi; Laura Papi; Maurizio Genuardi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/331282
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