14 - Hearing loss

Question 1

difference between genetically heterogeneous and polygenic

Answer 1

genetically heterogeneous - same phenotype has multiple genetic causes
polygenic - mutations in multiple genes cause disease in an individual

Question 2

branchio-oto-renal syndrome

Answer 2

branchial cyst / pouch looking thing, ear pits, renal abnlties

Question 3

hearing loss + long QT / history of sudden death in family

Answer 3

Jervell and Lange-Nielsen synd

Question 4

hearing loss + goiter

Answer 4

pendred syndrome

Question 5

hearing loss + retinitis pigmentosa

Answer 5

usher synd

Question 6

hearing loss + abnl colored eyes + white streak of hair in front

Answer 6

waardenburg synd

Question 7

gene responsible for most non-syndromic congenital hearing loss

Answer 7

GJB2 - connexin 26

Question 8

carrier rate for connexin 26 mutations

Answer 8

3%

Question 9

next gen sequencing - when to use it

Answer 9

looks at many genes at once, used when a disease has locus heterogeneity