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| Martins,Fábio Tadeu Arrojo; Ramos,Berenice Dias; Sartorato,Edi Lúcia. |
| Abstract HDR syndrome is a rare autosomal dominant disorder caused by mutations in the GATA3 gene and characterized by hypoparathyroidism, sensorineural deafness and renal abnormalities. Here we report a Brazilian family, from which the proband, his mother and his grandfather were diagnosed with bilateral sensorineural hearing loss. Molecular screening of the GJB2, GJB6 and MTRNR1 genes in the proband showed no alterations; however, whole exome sequencing detected a heterozygous mutation, c.1099C > T (p.Arg367*), in the GATA3 gene. Segregation analyses showed that the mother also had the mutation, but not the grandparents, hence indicating a different hearing impairment type for the grandfather. Paternity test of the mother of the proband confirmed that... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: HDR syndrome; Hypoparathyroidism; Deafness; Renal abnormalities; Whole exome sequencing. |
| Ano: 2018 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572018000500794 |
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| Duan,Yongheng; Lin,Sheng; Xie,Lichun; Zheng,Kaifeng; Chen,Shiguo; Song,Hui; Zeng,Xuchun; Gu,Xueying; Wang,Heyun; Zhang,Linghua; Shao,Hao; Hong,Wenxu; Zhang,Lijie; Duan,Shan. |
| Abstract X-linked intellectual disability (XLID) has been associated with various genes. Diagnosis of XLID, especially for non-syndromic ones (NS-XLID), is often hampered by the heterogeneity of this disease. Here we report the case of a Chinese family in which three males suffer from intellectual disability (ID). The three patients shared the same phenotype: no typical clinical manifestation other than IQ score ≤ 70. For a genetic diagnosis for this family we carried out whole exome sequencing on the proband, and validated 16 variants of interest in the genomic DNA of all the family members. A missense mutation (c.710G > T), which mapped to exon 6 of the Rab GDP-Dissociation Inhibitor 1 (GDI1) gene, was found segregating with the ID phenotype, and this... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Intellectual disability; GDI1 gene; Guanosine diphosphate dissociation inhibitor; Whole exome sequencing. |
| Ano: 2017 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572017000400591 |
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| Borges,Murilo G.; Rocha,Cristiane S.; Carvalho,Benilton S.; Lopes-Cendes,Iscia. |
| Abstract For a better interpretation of variants, evidence-based databases, such as ClinVar, compile data on the presumed relationships between variants and phenotypes. In this study, we aimed to analyze the pattern of sequencing depth in variants from whole-exome sequencing data in the 1000 Genomes project phase 3, focusing on the variants present in the ClinVar database that were predicted to affect protein-coding regions. We demonstrate that the distribution of the sequencing depth varies across different sequencing centers (pair-wise comparison, p < 0.001). Most importantly, we found that the distribution pattern of sequencing depth is specific to each facility, making it possible to correctly assign 96.9% of the samples to their sequencing center.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Whole exome sequencing; Depth; ClinVar; Computational biology; Clinical genomics. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400804 |
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| Wang,Qi; Xingxing,Lu; Ding,Zhiwei; Qi,Yu; Liu,Yuhe. |
| Abstract We report on the genetic analysis of a Chinese family in which four male patients presented with postlingual progressive hearing loss, associated with distal muscle wasting and unsteady ataxic gait. Using whole exome sequencing, we identified a new pathogenic variant (c.1463C>T, p.Pro488Leu) in the AIFM1 gene, which encodes the apoptosis-inducing factor mitochondrion-associated 1 precursor. AIFM1 is involved in the mitochondrial respiratory chain and cellular caspase-independent apoptosis pathway and has been reported to cause multiple phenotypes including hearing loss. The p.Pro488Leu missense variant segregated with symptoms in the pedigree. It was not found in the dbSNP database, databases of genomes and SNPs in the Chinese population, in 74... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Whole exome sequencing; Apoptosis-inducing factor; AIFM1; X-linked recessive hereditary hearing loss. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000400543 |
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