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Mendeley readers
Attention Score in Context
| Title |
Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect
|
|---|---|
| Published in |
Genetics and Molecular Biology, June 2017
|
| DOI | 10.1590/1678-4685-gmb-2016-0231 |
| Pubmed ID | |
| Authors |
Renata C. Scalco, Fernanda T. Gonçalves, Hadassa C. Santos, Mari M. S. G. Cardena, Carlos A. Tonelli, Mariana F. A. Funari, Rosana M. Aracava, Alexandre C. Pereira, Cintia Fridman, Alexander A. L. Jorge |
| 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 mutation, with 33 heterozygous individuals. The minor allelic frequency of this mutation was 0.29% in this population (confidence interval 95% 0.08-0.5%), which is significantly higher than the frequency of other pathogenic STAT5B allele variants observed in public databases (p < 0.001). All heterozygous carriers had the same haplotype present in the homozygous patients, found in only 9.4% of non-carriers (p < 0.001), supporting the existence of a founder effect. The Y-chromosome haplotype, mtDNA and genomic ancestry analysis indicated a European origin of this mutation. Our results provide compelling evidence for a founder effect of STAT5B c.424_427del mutation. |
Mendeley readers
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 11 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 2 | 18% |
| Researcher | 2 | 18% |
| Student > Ph. D. Student | 1 | 9% |
| Other | 1 | 9% |
| Student > Doctoral Student | 1 | 9% |
| Other | 1 | 9% |
| Unknown | 3 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 3 | 27% |
| Biochemistry, Genetics and Molecular Biology | 2 | 18% |
| Immunology and Microbiology | 1 | 9% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 9% |
| Unknown | 4 | 36% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 08 August 2017.
All research outputs
#22,764,772
of 25,382,440 outputs
Outputs from Genetics and Molecular Biology
#647
of 772 outputs
Outputs of similar age
#290,046
of 331,621 outputs
Outputs of similar age from Genetics and Molecular Biology
#10
of 14 outputs
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