A new insight into fragile X syndrome among Basque population

American Journal of Medical Genetics. Part a
O PeñagarikanoIsabel Arrieta

Abstract

The expansion of a trinucleotide repeat [CGG]n located in the FMR1 X-linked gene is the main cause of fragile X syndrome, the most common form of inherited mental retardation. We have analyzed the factors known, to date, to influence the instability of the repeat in 158 normal X chromosomes from the Spanish Basque population. These factors included length of the repeat, AGG interspersion pattern, length of uninterrupted CGG and DXS548-FRAXAC1 markers associated haplotype. Previous investigations on Basques showed an absence of this disorder among mentally retarded individuals that was likely due to a low prevalence of large CGG alleles and the presence of AGG interruptions on them. The present report suggests that, although the frequency of large alleles is low and they do maintain AGG interruptions, different mutational pathways that might lead to fragile X syndrome could be occurring among Basques. These pathways mainly include alleles with internal sequences 9 + 9 + n and 9 + 12 + 9 that show fragile X associated haplotypes. Besides, the lack of the most proximal AGG interruption, proposed recently as a novel factor involved in CGG repeat instability, was highly identified among alleles with long pure CGG tracts, which showe...Continue Reading

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Citations

Jan 4, 2012·Annals of Human Genetics·Maitane BarasoainIsabel Arrieta
Jan 22, 2015·Intractable & Rare Diseases Research·Reymundo LozanoRandi J Hagerman
Jan 22, 2015·Intractable & Rare Diseases Research·Carolyn M YrigollenFlora Tassone
May 24, 2012·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Marsha Mailick SeltzerDaniel Mandel
Dec 13, 2005·Clinical Biochemistry·Priscilla M K PoonChi-Pui Pang

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