Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses

Article Abstract:

An autosomal dominant bone disorder that involves multiple benign cartilage-capped tumors, or exostoses, is called hereditary multiple exostoses (EXT). Three loci have been identified for this genetically heterogeneous condition. The EXT1 and EXT2 genes have been analyzed in 26 EXT families coming from 9 countries and of them, 10 families had an EXT1 mutation while 10 had an EXT2 mutation. Mutations in either the EXT1 or the EXT2 gene are responsible for more than half of the EXT cases. Most cause premature termination of EXT proteins. Missense mutations are uncommon.

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1

Dorothy

Oct 14, 2008 @ 10:10 am

Hme I dont thinkit runs in families.Only have my nephew with this condition.Maybe it was because his mother was abused when she was pregnant with this nephew.This condition its like a syndrome cause he lso have learning disability especially with late speach and he talks better english than our language. He understandes every thing in maltese but reply ans speek in english.HME afected both hands and feet but both hands are dislocated from the elbow and bowing of the ulna.we done genetic tests and although only cromozones were testedevery thing was normal.We done all kind of test and theraphy to my nephew speech, physio, occupational cycology, but the best theraphy is when we take him to football nursuries.Today he had the once a year check up with international consultant Dr. Burge and we was told that he has alott of exostoses to both arms which is impossible to take them off and its better not to do any surguries till his grow plates stop growing. I cannot understand but 4 years ago my nephew had surgury at Oxford. Was it done for nothing or since opertions in my country are paid by government who knows maybe he cannot pay more at the moment.... who knows.May be one day this operation will be done in my country although I think my nephew is the only one with this condition in my country. My nephew is 9 years old and HME started when he was 2years 6months old.
Hope you understand my english
thanks
Dorothy

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Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa

Article Abstract:

The localization and identification of the photoreceptor cell-specific nuclear gene NR2E3 as a novel disease locus and gene for 'autosomal dominant retinitis pigmentosa' (adRP) is described. A different pathogenetic mechanism is proposed for these distinct dominant and recessive phenotypes, which is attributed to the dual key role of NR2E3 in the regulation-specific genes during rod development and maintenance.

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EXT(ital)-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas

Article Abstract:

Loss of heterozygosity (LOH) in hereditary and sporadic osteochondromas and secondary chondrosarcomas is discussed. It was possible that one EXT(ital) germline mutation would acts in a dominant-negative manner to cause multiple benign osteochondromas. This question has been addressed in a study of 34 cases using EXT1(ital)- and EXT2(ital)-mutation analysis.

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