The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

phenylalanine change at position 154 on the other one. We found neither expansions nor point mutations in three patients. The length of FA alleles ranged from 201 to 1,186 repeat units, with no overlap with the normal range, and showed a negatively skewed distribution with a peak between 800 and 1,000 repeats. The FA repeat showed meiotic instability with a median variation of 150 repeats. The lengths of both larger and smaller alleles in each patient inversely correlated with age at onset of the disorder. Smaller alleles showed the best correlation, accounting for approximately 50% of the variation of age at onset. Mean allele length was significantly higher in patients with diabetes and in those with cardiomyopathy. -->

Popis souboru:	STAMPA
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f7848994e8cacda116e30ff4d73f2f90 http://hdl.handle.net/11588/332863
Rights:	OPEN
Přírůstkové číslo:	edsair.pmid.dedup....f7848994e8cacda116e30ff4d73f2f90
Autor:	Filla, A., Demichele, G., Francesca Cavalcanti, Pianese, L., Monticelli, A., Campanella, G., Cocozza, S.
Přispěvatelé:	Filla, Alessandro, DE MICHELE, Giuseppe, F., Cavalcanti, L., Pianese, A., Monticelli, G., Campanella, Cocozza, Sergio
Rok vydání:	1996
Předmět:	Adult Adolescent Base Sequence Genotype Molecular Sequence Data Cardiomyopathy Hypertrophic Diabetes Complications Phenotype Gene Frequency Italy Trinucleotide Repeats Wheelchairs Friedreich Ataxia Child Preschool Diabetes Mellitus Disease Progression Humans Point Mutation Age of Onset Child Research Article
Zdroj:	Scopus-Elsevier ResearcherID American journal of human genetics 59 (1996): 554–556. info:cnr-pdr/source/autori:Filla A, DeMichele G, Cavalcanti F, Pianese L, MONTICELLI A, Campanella G, Cocozza S/titolo:The relationship between trinucleotide (GAA) repeat length and clinical features in friedreich ataxia/doi:/rivista:American journal of human genetics/anno:1996/pagina_da:554/pagina_a:556/intervallo_pagine:554–556/volume:59
Popis:	Friedreich ataxia (FA) is associated with the expansion of a GAA trinucleotide repeat in the first intron of the X25 gene. We found both alleles expanded in 67 FA patients from 48 Italian families. Five patients from three families were compound heterozygotes with expansion on one allele and an isoleucine-->phenylalanine change at position 154 on the other one. We found neither expansions nor point mutations in three patients. The length of FA alleles ranged from 201 to 1,186 repeat units, with no overlap with the normal range, and showed a negatively skewed distribution with a peak between 800 and 1,000 repeats. The FA repeat showed meiotic instability with a median variation of 150 repeats. The lengths of both larger and smaller alleles in each patient inversely correlated with age at onset of the disorder. Smaller alleles showed the best correlation, accounting for approximately 50% of the variation of age at onset. Mean allele length was significantly higher in patients with diabetes and in those with cardiomyopathy.
Databáze:	OpenAIRE
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