Genetic mutations Flashcards
Waardenburg
Type 1: White forelock, SNHL, heterochromia iridites, dystopia canthorum. AD. PAX3
Type 2: No dystopia canthorum. AD. MITF
Type 3: WS plus contracture or hypoplasia of the limbs. AD. PAX3
Type 4: WS plus Hirschsprung disease. AR
Menin
MEN1 gene, MEN 1 syndrome
NF2
AD, merlin, chromosome 22
CHD7
CHARGE
COL2A
Stickler, type I. AD. NL to mild SNHL, ocular findings, joint hypermobility, midline cleft
COL11A1
Stickler, type II. AD. No ocular findings. SNHL between types 1 and 3
COL11A2
Stickler, type III: AD. Moderate to severe SNHL
COL9A1
Stickler, type IV: AR
TCOF-1
Treacher Collins. AD. Protein: Treacle
Neurofibromin
NF1
Fibroblast growth factor receptor 2 (FGFR2)
Apert
Alport
Type IV collagen
GLI3
Pallister Hall
MEN 2A
RET
MEN 2B
RET
Familial medullary thyroid carcinoma (FMTC)
RET, NTRK1
PTC
RET (20%), BRAF (30%, V600E=aggressive PTC), NTRK1 (5-10%)
GJB2
Connexin 26
Pendred
AR, pendrin mutation, SLC26A4
A1555G mutation
Susceptibility to aminoglycoside ototoxicity
Mitochondrial inheritance
POU3F4
Perilymphatic gusher X linked mixed hearing loss
ACYP2
Susceptibility to platinum induced toxicity
Branchio-oto-renal syndrome
AD, EYA1
JLN
AR. KVLQT1, KCNE1
Usher
AR. MYO7A, usherin
1: Severe to profound SNHL, vestibular dysfunction and RP in childhood
2: Moderate to severe SNHL, no vestibular dysfunction, and RP in 3rd-4th decades
3: Progressive SNHL, vestibular dysfunction and variable onset of RP
Refsum disease
AR, PHYH and PEX7. Severe, progressive SNHL, RP, peripheral neuropathy, ataxia, and elevated CSF protein without increase in number of cells
