Genetic mutations Flashcards by Susannah Orzell

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

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Menin

MEN1 gene, MEN 1 syndrome

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NF2

AD, merlin, chromosome 22

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CHD7

CHARGE

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COL2A

Stickler, type I. AD. NL to mild SNHL, ocular findings, joint hypermobility, midline cleft

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COL11A1

Stickler, type II. AD. No ocular findings. SNHL between types 1 and 3

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COL11A2

Stickler, type III: AD. Moderate to severe SNHL

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COL9A1

Stickler, type IV: AR

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TCOF-1

Treacher Collins. AD. Protein: Treacle

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Neurofibromin

NF1

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Fibroblast growth factor receptor 2 (FGFR2)

Apert

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Alport

Type IV collagen

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GLI3

Pallister Hall

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MEN 2A

RET

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MEN 2B

RET

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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