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| Scalco,Renata C.; Gonçalves,Fernanda T.; Santos,Hadassa C.; Cardena,Mari M. S. G.; Tonelli,Carlos A.; Funari,Mariana F. A.; Aracava,Rosana M.; Pereira,Alexandre C.; Fridman,Cintia; Jorge,Alexander A. L.. |
| ABSTRACT Homozygous STAT5B mutations causing growth hormone insensitivity with immune dysfunction were described in 10 patients since 2003, including two Brazilian brothers from the south of Brazil. Our objectives were to evaluate the prevalence of their STAT5B mutation in this region and to analyze the presence of a founder effect. We obtained DNA samples from 1,205 local inhabitants, 48 relatives of the homozygous patients and four individuals of another affected family. Genotyping for STAT5B c.424_427del mutation and for two polymorphic markers around it was done through fragment analysis technique. We also determined Y-chromosome and mtDNA haplotypes and genomic ancestry in heterozygous carriers. We identified seven families with STAT5B c.424_427del... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Founder effect; Growth hormone insensitivity; Immune dysfunction; STAT5B. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000300436 |
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| Fridman,Cintia; Varela,Monica C.; Valente,Kette; Marques-Dias,Maria J.; Koiffmann,Célia P.. |
| The Angelman syndrome (AS) (developmental delay, mental retardation, speech impairment, ataxia, outbursts of laughter, seizures) can result either from a 15q11-q13 deletion, or from paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. We describe here the phenotypic and behavioral variability detected in eight UPD patients out of a group of 58 AS patients studied. All of them presented developmental delay, mental retardation, ataxia, speech impairment, and frequent drooling. Only one had microcephaly, whereas in two of them the OFC (head circumference) was above the 98th percentile. The weight of all patients was above the 50th percentile, and in three of them the height was above the 90th percentile. Three were able to say a few words and to... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Angelman syndrome; Uniparental disomy; Macrosomy; Macrocephaly. |
| Ano: 2002 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572002000200002 |
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| Fridman,Cintia; Koiffmann,Célia P.. |
| Chromosomal 15q11-q13 region is of great interest in Human Genetics because many structural rearrangements have been described for it (deletions, duplications and translocations) leading to phenotypes resulting in conditions such as the Prader-Willi (PWS) and Angelman (AS) syndromes which were the first human diseases found to be related to the differential expression of parental alleles (genomic imprinting). Contrary to Mendelian laws where the parental inheritance of genetic information does not influence gene expression, genomic imprinting is characterized by DNA modifications that produce different phenotypes depending on the parental origin of the mutation. Clinical manifestation of PWS appears when the loss of paternally expressed genes occurs and AS... |
| Tipo: Info:eu-repo/semantics/article |
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| Ano: 2000 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000400004 |
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