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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family

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Dantas, Vitor G. L. [1] ; Freitas, Erika L. [1] ; Della-Rosa, Valter A. [2] ; Lezirovitz, Karina [1, 3] ; de Moraes, Ana Maria S. M. [4] ; Ramos, Silvia B. [5] ; Oiticica, Jeanne [3] ; Alves, Leandro U. [1] ; Pearson, Peter L. [1] ; Rosenberg, Carla [1] ; Mingroni-Netto, Regina C. [1]
Total Authors: 11
[1] Univ Sao Paulo, Dept Genet & Evolutionary Biol, Biosci Inst, Sao Paulo, SP - Brazil
[2] Univ Estadual Maringa, Dept Biotechnol Genet & Cellular Biol, Maringa, Parana - Brazil
[3] Univ Sao Paulo, Sch Med, Clin Hosp, Otolaryngol Lab, LIM32, Sao Paulo, SP - Brazil
[4] Univ Estadual Maringa, Dept Med, Maringa, Parana - Brazil
[5] Univ Ctr Maringa, Maringa, Parana - Brazil
Total Affiliations: 5
Document type: Journal article
Source: INTERNATIONAL JOURNAL OF AUDIOLOGY; v. 54, n. 9, p. 593-598, 2015.
Web of Science Citations: 1

Objective: To identify novel genetic causes of syndromic hearing loss in Brazil. Design: To map a candidate chromosomal region through linkage studies in an extensive Brazilian family and identify novel pathogenic variants using sequencing and array-CGH. Study sample: Brazilian pedigree with individuals affected by BO syndrome characterized by deafness and malformations of outer, middle and inner ear, auricular and cervical fistulae, but no renal abnormalities. Results: Whole genome microarray-SNP scanning on samples of 11 affected individuals detected a multipoint Lod score of 2.6 in the EYA1 gene region (chromosome 8). Sequencing of EYA1 in affected patients did not reveal pathogenic mutations. However, oligonucleotide-array-CGH detected a duplication of 71.8Kb involving exons 4 to 10 of EYA1 (heterozygous state). Real-time-PCR confirmed the duplication in fourteen of fifteen affected individuals and absence in 13 unaffected individuals. The exception involved a consanguineous parentage and was assumed to involve a different genetic mechanism. Conclusions: Our findings implicate this EYA1 partial duplication segregating with BO phenotype in a Brazilian pedigree and is the first description of a large duplication leading to the BOR/BO syndrome. (AU)

FAPESP's process: 98/14254-2 - The Human Genome Research Center
Grantee:Mayana Zatz
Support type: Research Grants - Research, Innovation and Dissemination Centers - RIDC
FAPESP's process: 09/05620-1 - Investigation of submicroscopic genomic alterations by array CGH in specific phenotypes: non-syndromic hereditary deafness and defects of müllerian development
Grantee:Erika Cristina Lopes Burrone de Freitas
Support type: Scholarships in Brazil - Post-Doctorate
FAPESP's process: 09/00898-1 - Submicroscopic genomic imbalances associated with specific congenital abnormalities and mental deficiency phenotypes
Grantee:Carla Rosenberg
Support type: Research Projects - Thematic Grants