ID
45909
Descripción
Principal Investigator: Bernice Morrow, PhD, Albert Einstein College of Medicine, Bronx, NY, USA MeSH: Bilateral deafness https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000969 Our goal is to find genes responsible for non-syndromic sensorineural hearing loss. Blood samples were collected from the JS6 family affected with hearing loss. The family is of Caribbean Hispanic ethnicity. Family JS6 consisted of two deaf siblings, JS6.001 (Male) and JS6.002 (Female) and healthy parents, JS6.100 (mother) and JS6.200 (father). The siblings had no other medical findings. Audiometry tests and Rinne and Weber tuning fork tests identified sensorineural hearing loss in the two siblings. We performed whole exome sequencing of the four individuals and identified a recessive mutation, p.(Arg186Trp), in the CIB2 gene in the two affected siblings. Both parents were unaffected carriers.
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Versiones (1)
- 17/1/24 17/1/24 - Simon Heim
Titular de derechos de autor
Bernice Morrow, PhD, Albert Einstein College of Medicine, Bronx, NY, USA
Subido en
17 de enero de 2024
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000969 Whole Exome Sequence of Hearing Loss Family
Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and affection status for sensorineural hearing loss.
- The subject pedigree table contains family IDs, subject IDs, mother, father and sex.
- This subject sample mapping data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table contains de-identified subject ID, gender, race and ethnicity of participant, and deafness status.
- This sample attributes table contains de-identified sample ID, body site where sample was collected, cell line, analyte type, name of the center which conducted sequencing, and proband status.
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Eligibility Criteria
- StudyEvent: SEV1
- Eligibility Criteria
- The subject consent file includes subject IDs, consent information, subject aliases, and affection status for sensorineural hearing loss.
- The subject pedigree table contains family IDs, subject IDs, mother, father and sex.
- This subject sample mapping data table contains a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample aliases and sample use.
- This subject phenotype table contains de-identified subject ID, gender, race and ethnicity of participant, and deafness status.
- This sample attributes table contains de-identified sample ID, body site where sample was collected, cell line, analyte type, name of the center which conducted sequencing, and proband status.
C0680251 (UMLS CUI [1,2])
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C0392760 (UMLS CUI [2,4])
C0030551 (UMLS CUI [2,5])
C0200345 (UMLS CUI [2,6])
C0012854 (UMLS CUI [2,7])
C0234725 (UMLS CUI [1,2])
C0086282 (UMLS CUI [1,3])
C0680251 (UMLS CUI [2,1])
C0030551 (UMLS CUI [2,2])
C0686905 (UMLS CUI [2,3])
C0687728 (UMLS CUI [2,4])