Disease relevance of MYH14

• These findings clearly demonstrate the role of MYH14 in causing autosomal dominant hearing loss and further confirm the crucial role of the myosin superfamily in auditive functions [1].

High impact information on MYH14

• After demonstrating that MYH14 is highly expressed in mouse cochlea, we performed a mutational screening in a large series of 300 hearing-impaired patients from Italy, Spain, and Belgium and in a German kindred linked to DFNA4 [1].
• This study allowed us to identify a nonsense and two missense mutations in large pedigrees, linked to DFNA4, as well as a de novo allele in a sporadic case [1].
• This decreased proliferation can be rescued by reintroducing NMHC II-C1 but not NMHC II-A or II-B into A549 cells, although noninserted NMHC II-C does rescue to a limited extent [2].
• However, unlike neuron-specific expression of the NMHC II-B insert, the NMHC II-C inserted isoform has widespread tissue distribution [3].
• NMHC II-C contains an alternatively spliced exon of 24 nucleotides in loop I at a location analogous to where a spliced exon appears in NMHC II-B and in the smooth muscle myosin heavy chain [3].

Biological context of MYH14

• Furthermore, haplotyping of a single nucleotide polymorphism (SNP) 5' to MYH14 excludes this gene from the critical region in this family [4].
• Genetic heterogeneity of deafness phenotypes linked to DFNA4 [4].

Anatomical context of MYH14

• Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4) [1].

Other interactions of MYH14

• Two separate DFNA4 families were screened for KCNK6 sequence alterations [5].

References