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Syndromic

Branchio-oto-renal

Jervell & Lange-Nielsen

Treacher Collins

Perrault syndrome

Usher Syndrome

Usher syndrome is characterised by hearing impairment and retinitis pigmentosa. Usher syndrome can be classified into 3 different types on the basis of clinical findings.

Clinical classification

Type	Hearing impairment	Vestibular responses	Onset of retinitis pigmentosa
Type I	Profound hearing loss Congenital	Absent	Onset in first decade
Type II	Sloping audiogram Congenital	Normal	Onset in first or second decade
Type III	Progressive hearing loss	Variable	Variable

Molecular classification

Locus	Location	Gene	References	OMIM entry
USH1A	(14q32 )	non existent	Kaplan et al., 1992 ; Gerber et al., 2006	276900
USH1B	11q13.5	MYO7A	Weil et al.,1995	276903
USH1C	11p15.1	USH1C	Smith et al., 1992 ; Verpy et al., 2000 ; Bitner-Glindzicz et al., 2000	276904
USH1D	10q22.1	CDH23	Wayne et al., 1996 ; Bork et al., 2001 ; Bolz et al., 2001	601067
USH1E	21q21	unknown	Chaib et al., 1997	602097
USH1F	10q21-22	PCDH15	Ahmed et al., 2001 ; Alagramam et al., 2001	602083
USH1G	17q24-25	SANS	Mustapha et al., 2002 ; Weil et al., 2003	606943
USH1H	15q22-23	unknown	Ahmed et al., 2009	612632
USH1J	15q23-q25.1	CIB2	Riazuddin et al., 2012	614869
USH1K	10p11.21-q21.1	unknown	Jaworek et al., 2012	614990
USH2A	1q41	USH2A	Kimberling et al., 1990 ; Eudy et al., 1998	276901
USH2B	3p23-24.2.	unknown	Hmani et al., 1999
USH2C	5q14.3-q21.3	VLGR1	Pieke-Dahl et al., 2000 ; Weston et al., 2004	605472
USH2D	9q32	WHRN	Ebermann et al., 2007	611383
USH3	3q21-q25	CLRN1	Sankila et al., 1995 ; Joensuu et al., 2001	276902 606397
USH3B	5q31.3	HARS	Puffenberger et al., 2012	614504
	10q24.31	PDZD7	Ebermann et al., 2010