Hearing/Vision

Question 1

BLEPHAROPHIMOSIS, PTOSIS, and EPICANTHUS INVERSUS

Answer 1

; AD FOXL2
Type 1: includes these + premature ovarian failure
Type 2: only these features

Question 2

Congenital hearing loss:

Answer 2

AR, GJB2, GJB6

Question 3

Hermansky pudlak syndrome:

Answer 3

HPS1, AP3B1, HPS 3,4,5,6,7,8; HPS9; AR
oculocutaneous albinism, foveal hypoplasia, increased crossing of optic nerve fibres
dx: del/dup testing for HPS1 (75% in puerto rican)

Question 4

Jervell and Lange-Nielsen Syndrome:

Answer 4

AR, KCNQ1 & KCNE1
hets at risk for long QT
congenital bilateral SNHL and prolonged QT.
Risk for arrhythmia, sudden death

Question 5

Leber Hereditary Optic Neuropathy:

Answer 5

Mito, MTND1/4/6
blurred vision d/t degeneration of retinal nerve>optic atrophy
dx: targeted mutations: m.G11778A (70%), m.G3460A, m.T14484C

Question 6

Pendred Syndrome:

Answer 6

AR, SLC26A4
severe SNHL, goiter in 75%
hotspots: 4 SNVs represent 50% of mutaitons

Question 7

Usher Syndrome:

Answer 7

AR, MYO7A, USH2A
Type1: congenital profound HL, balance problems, RP onset pre-puberty
Type2: mild-severe HL, normal balance, RP onset in teens-20’s
Type3: progressive HL, progress balance issues, variable onset RP

Question 8

Waardenburg syndrome:

Answer 8

AD, PAX3
White forelock, heterochromia irides, SNHL