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| Pardono,Eliete; Mazzeu,Juliana F.; Lezirovitz,Karina; Auricchio,Maria Teresa B.M.; Iughetti,Paula; Nascimento,Rafaella M.P.; Mingroni-Netto,Regina C.; Otto,Paulo A.. |
| We describe two different novel mutations in the PAX3 gene, detected in two families with cases of Waardenburg syndrome type I (WSI). The missense mutation detected in one family involved a single substitution in exon 2 (c.142 G > T) and was present both in the affected individual and in his clinically normal father. The mutation found in the second family consisted of a deletion of 13 bases, c.764-776del(TTACCCTGACATT), in exon 5. |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Waardenburg syndrome; PAX3 gene; Incomplete penetrance; Sensorineural hearing impairment; Telecanthus. |
| Ano: 2006 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400003 |
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| Capelli,Leonardo P.; Mingroni-Netto,Regina C.; Vianna-Morgante,Angela M.. |
| In order to investigate the stability of the FMR1 (Fragile X Mental Retardation 1) alleles from the normal population, when maternally inherited, we analyzed 75 mother-to-son transmissions. Sixty-eight alleles fell within the common range with 20-40 CGG repeats, and seven alleles were intermediate, with 41-48 repeats. No change was observed either in the length or in the structure of these repeats upon transmission. Fifty-three alleles were ascertained in different families, and their size distribution was similar to those described for European and European-derived populations, with three peaks of frequency: 66% of the alleles with (CGG)29, (CGG)30 or (CGG)31, 7.5% with (CGG)20, and 5.7% with (CGG)23. Regarding the AGG interspersion pattern, 69.8% had two... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: FMR1 gene; CGG repeat; Fragile X. |
| Ano: 2005 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000100002 |
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| Mingroni-Netto,Regina C.; Pavanello,Rita C.M.; Otto,Paulo A.; Vianna-Morgante,Angela M.. |
| We report on the cytogenetic and DNA analysis of 55 families with the fragile X (FMR-1 locus) mutation (318 individuals and 15 chorionic villi samples). A total of 129 males were investigated, 54 mentally normal and 75 presenting mental retardation. Among the 54 normal males, 11 had the premutation, and none expressed the fragile site. The full mutation was detected in 73 retarded males, and 14 (18%) presented a premutation along with the full mutation (mosaics). All of them manifested the fragile site. The frequencies of fragile site expression correlated positively with the sizes of the expansion of the CGG repeats (<FONT FACE="Symbol">D</FONT>). Among 153 normal females, 85 were found to be heterozygous for the premutation and 15 had the... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 1997 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-84551997000400028 |
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