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Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dup(15)

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Vulcani-Freitas T. M., Gil-da-Silva-Lopes V. L., Varella-Garcia M., Maciel-Guerra A. T.

Journal of Applied Genetics

2006

vol. 47

issue 1

89-91

We report on a phenotypically normal man with infertility, whose 47,XY,+mar karyotype was studied by spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) using a chromosome-15-specific probe (LSI SNRPN). By these techniques, the marker chromosome was identified as a small inv dup (15). Possible causes for male infertility in this case are discussed.

Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

88%

Alexandrino F., Oliveira C. A., Reis F. C., Maciel-Guerra A. T., Sartorato E. I.

Journal of Applied Genetics

2004

vol. 45

issue 2

249-254

Deafness is a complex disorder that is affected by a high number of genes and environmental factors. Recently, enormous progress has been made in nonsyndromic deafness research, with the identification of 90 loci and 33 nuclear and 2 mitochondrial genes involved (http://dnalab-www.uia.ac.be/dnalab/hhh/). Mutations in the GJB3 gene, encoding the gap junction protein connexin 31 (Cx31), have been pathogenically linked to erythrokeratodermia variabilis and nonsyndromic autosomal recessive or dominant hereditary hearing impairment. To determine the contribution of the GJB3 gene to sporadic deafness, we analysed the GJB3 gene in 67 families with nonsyndromic hearing impairment. A single coding exon of the GJB3 gene was amplified from genomic DNA and then sequenced. Here we report on three amino acid changes: Y177D (c.529T > G), 49delK (c.1227C > T), and R32W (c.144-146delGAA). The latter substitution has been previously described, but its involvement in hearing impairment remains uncertain. We hypothesize that mutations in the GJB3 gene are an infrequent cause of nonsyndromic deafness.

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study

88%

Soardi F. C., Coeli F. B., Maciel-Guerra A. T., Guerra-Junior G., de_ M. M. P.

vol. 51

issue 2

223-224

The SRY gene (sex-determining region on the Y chromosome; MIM *480000) is responsible for initiating male gonadal development. However, only 15?20% of the cases of XY gonadal dysgenesis are due to mutations in its sequence. Recently, heterozygous mutations in the NR5A1 gene (nuclear receptor subfamily 5, group A, member 1; MIM +184757) have been described in association with ovarian failure and disorders of testis development with or without adrenal failure. Here we describe a case of XY complete gonadal dysgenesis due to a p.D293N homozygous mutation in the NR5A1 gene, with normal SRY and no adrenal failure.

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3 Journal of Applied Genetics

1 2010

1 2006

1 2004

3 Maciel-Guerra A. T.

1 Alexandrino F.

1 Coeli F. B.

1 Gil-da-Silva-Lopes V. L.

1 Guerra-Junior G.

1 Oliveira C. A.

1 Reis F. C.

1 Sartorato E. I.

1 Soardi F. C.

1 Varella-Garcia M.

1 Vulcani-Freitas T. M.

1 de_ M. M. P.

Search results

Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dup(15)

Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness

Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study