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Genetics Case: Mary & Charles

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alexandracostlow

Mary and Charles are an African American couple seeking genetic counseling before the birth of their baby. Mary and her brother Glen both have profound deafness and enlarged vestibular aqueducts, possibly indicating Pendred syndrome. Charles' deafness is due to meningitis. Pendred syndrome is an autosomal recessive condition causing deafness, goiter, and inner ear abnormalities. Genetic testing of Mary, Glen, and their families can help determine if they have Pendred syndrome and counsel them on implications.

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Genetics Case: Mary & Charles Alexandra Costlow, B.S. Medical Audiology Spring 2011
Case History ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Audiological Characteristics of Mary & Charles ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Enlarged Vestibular Aqueduct
Family History of Hearing Loss ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Family History ,[object Object],[object Object],[object Object],[object Object]
Pedigree
Important Facts ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Pendred Syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],(Madeo, Pryor, Brewer, Zalewski, King, Butman, Yang, Park, & Griffith, 2006)
Clinical Features of Pendred Syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],(Madeo et al., 2006)
Its Impostors ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],(Madeo et al., 2006)
Phenotype - Audiological ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],(Madeo et al., 2006)
Phenotype - Audiological ,[object Object],[object Object],[object Object],[object Object],[object Object],(Madeo et al., 2006)
Phenotype - Thyroid ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Phenotype – Inner Ear Malformations ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Enlarged Vestibular Aqueduct From the NIDCD Website: http://www.nidcd.nih.gov/health/hearing/eva-intro.html
Phenocopies ,[object Object],[object Object],[object Object],[object Object],[object Object]
Molecular Characteristics ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
SLC26A4 From the Genetics Home Reference website of the National Institutes of Health: http://ghr.nlm.nih.gov/gene/SLC26A4
Molecular Characteristics ,[object Object],[object Object],[object Object],[object Object],(Madeo et al., 2006)
Clinical Identification of Pendred Syndrome ,[object Object],[object Object],[object Object],[object Object],[object Object]
Genetic Testing ,[object Object],[object Object],[object Object],[object Object],[object Object],(Madeo et al., 2006)
Genetic Testing ,[object Object],[object Object],[object Object]
So What About Mary & Charles? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
So What About Mary & Charles? ,[object Object],[object Object],[object Object],[object Object],[object Object]
So What About Mary & Charles? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Referrals ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Referrals ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Referrals ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Discussion
References ,[object Object],[object Object],[object Object]
References ,[object Object]

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Genetics Case: Mary & Charles

Editor's Notes

  1. From the NIH site for EVA
  2. Pleiotropic = causing several phenotypic effects in the body
  3. Low-frequency conductive component as the result of volume and pressure displacement as the result of abnormal inner ear anatomy.
  4. Especially after head injury
  5. Perchlorate discharge test has low specificity = measures number of true negatives, it misses a lot of true negatives.
  6. Biallelic = refers to both alternate forms of a gene Pendrin Chromosome 7, long arm, gene=31
  7. On the long arm of chromosome 7
  8. Pendrin
  9. *A 2005 NIH Study = audiomtery, thyroid ultrasound, thyroid function test, MRI or CT of inner ear, and perchlorate testing when indicated
  10. Bidirectional sequencing = Faster (half as long), better to confirm abnormalities Coding exons = sequence in DNA or RNA transcript, contains the Open Reading Frame (ORF) that codes for a particular protein Intrson = section of unused sequence