. Author manuscript; available in PMC: 2018 Jan 12.

Published in final edited form as: Nat Rev Dis Primers. 2017 Jan 12;3:16094. doi: 10.1038/nrdp.2016.94

Table 1.

Common syndromic forms of hearing loss

Syndrome	Proteins involved (coding genes)	Clinical characteristics^*

Jervell and Lange–Nielsen	Potassium voltage-gated channel subfamily E member 1 (KCNE1) and potassium voltage-gated channel subfamily KQT member 1 (KCNQ1)	Cardiac arrhythmia (long QT interval)

Usher	Usher syndrome type 1: Unconventional myosin-VIIa (MYO7A), harmonin (USH1C), cadherin-23 (CDH23), protocadherin-15 (PCDH15), Usher syndrome type-1G protein (USH1G) and calcium and integrin-binding family member 2 (CIB2)	Retinitis pigmentosa
	Usher syndrome type 2: usherin (USH2A), adhesion G protein-coupled receptor V1 (ADGRV1) and whirlin (WHRN)
	Usher syndrome type 3: clarin-1 (CLRN1)

Alport	Collagen alpha-3(IV) chain (COL4A3), collagen alpha-4(IV) chain (COL4A4) and collagen alpha-5(IV) chain (COL4A5)	Glomerular kidney disease and eye abnormalities

Branchio-oto-renal	Eyes absent homolog 1 (EYA1), homeobox protein SIX1 (SIX1) and homeobox protein SIX5 (SIX5)	Branchial cysts or fistulae, external and middle ear anomalies and renal abnormalities

Waardenburg	Paired box protein Pax-3 (PAX3), microphthalmia-associated transcription factor (MITF, endothelin-3 (EDN3), endothelin B receptor (EDNRB), zinc finger protein SNAI2 (SNAI2) and transcription factor SOX-10 (SOX10)	Pigmentary abnormalities of skin, hair and iris

Pendred	Pendrin (SLC26A4)	Enlarged vestibular aqueduct and thyroid goiter

Stickler	Collagen alpha-1¹⁵¹ chain (COL2A1), collagen alpha-1(IX) chain (COL9A1), collagen alpha-2(IX) chain (COL9A2), collagen alpha-1(XI) chain (COL11A1) and collagen alpha-2(XI) chain (COL11A2)	Skeletal and joint abnormalities, myopia and vitreoretinal degeneration

Treacher Collins	Treacle protein (TCOF1), DNA-directed RNA polymerases I and III subunit RPAC1 (POLR1C) and DNA-directed RNA polymerases I and III subunit RPAC2 (POLR1D)	Characteristic facies caused by underdevelopment of facial bones (malar and zygomatic hypoplasia, small jaw), cleft palate, eyelid colobomata and external and middle ear anomalies

Aside from the manifestations that affect the ear or the auditory system.