+Table 1: Genes linked to<unk>  Type Freq Gene locus Gene Protein Function Size (AA) UniProt OMIM<unk> H1B 39–55% 11q13.5 MYO7A Myosin VIIA Motor protein 2215<unk> H1C 6–7% 11p15.1-p14<unk> H1C Harmonin PDZ-domain protein 552<unk> H1D 19–35% 10q21-q22 CDH23 Cadherin 23 Cell adhesion 3354<unk> H1E rare 21q21 ? ? ? ? ?<unk> H1F 11–19% 10q11.2-q21 PCDH15 Protocadherin 15 Cell adhesion 1955<unk> H1G 7% 17q24-q25<unk> H1G SANS Scaffold protein 461<unk> H2A 80% 1q41<unk> H2A<unk> herin Transmembrane linkage 5202<unk> H2C 15% 5q14.3-q21.1 GPR98 VLGR1b Very large GPCR 6307<unk> H2D 5% 9q32-q34 DFNB31 Whirlin PDZ-domain protein 907<unk> H3A 100% 3q21-q25 CLRN1 Clarin-1 Synaptic shaping 232<unk>  is inherited in an autosomal recessive pattern. Several genes have been associated with<unk> <unk> ing linkage analysis of patient families (Table 1) and DNA sequencing of the identified loci. A mutation in any one of these genes is likely to result in<unk> . The clinical subtypes<unk> her I and II are associated with mutations in any one of six <unk> H1B-G) and three <unk> H2A, C-D) genes, respectively, whereas only one gene,<unk> H3A, has been linked to<unk> her III so far. Two other genes,<unk> H1A and<unk> H2B, were initially associated with<unk> , but<unk> H2B has not been verified and<unk> H1A was incorrectly determined and does not exist. Research in this area is ongoing.<unk> ing interaction analysis techniques, the identified gene products could be shown to interact with one another in one or more larger protein complexes. If one of the components is missing, this protein complex cannot fulfil its function in the living cell, and it probably comes to the degeneration the same. The function of this protein complex has been suggested to participate in the signal transduction or in the cell adhesion of sensory cells. A study shows that three proteins related to<unk>  genes (PCDH15, CDH23, GPR98) are also involved in auditory cortex development, in mouse and macaque. Their lack of expression induces a decrease in the number of parvalbumin interneurons. Patients with mutations for these genes could have consequently auditory cortex defects.
Usher syndrome
Myhre syndrome
Sly syndrome
Irlen syndrome
McGillivray syndrome
Fabry disease
Bart syndrome
Sugarman syndrome