Association of Unconventional Myosin
            <i>MYO15</i>
            Mutations with Human Nonsyndromic Deafness
            <i>DFNB3</i>

Wang, Aihui; Liang, Yong; Fridell, Robert A.; Probst, Frank J.; Wilcox, Edward R.; Touchman, Jeffrey W.; Morton, Cynthia C.; Morell, Robert J.; Noben-Trauth, Konrad; Camper, Sally A.; Friedman, Thomas B.

doi:10.1126/science.280.5368.1447

Cited by 416 publications

(269 citation statements)

References 13 publications

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“…18 Subsequently, Wang et al 19 found three different myosin-XV (MYO15A) mutations segregating with profound congenital deafness, one in the inbred Bengkala kindred and the others in two unrelated consanguineous families from India. In 2001, Liburd et al 20 described three consanguineous families from Pakistan with homozygous missense MYO15A mutations causing deafness as well as one deaf Smith-Magenis's syndrome (del(17)p11.2) patient who was hemizygous for a missense mutation of MYO15A.…”

Section: Genetic Heterogeneity Of Deafness In Inbred Familymentioning

confidence: 99%

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

et al. 2007

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Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 genes identified. Here, we report a large inbred Brazilian pedigree with 26 subjects affected by prelingual deafness. Given the extensive consanguinity found in this pedigree, the most probable pattern of inheritance is autosomal recessive. However, our linkage and mutational analysis revealed, instead of an expected homozygous mutation in a single gene, two different mutant alleles and a possible third undetected mutant allele in the MYO15A gene (DFNB3 locus), as well as evidence for other causes for deafness in the same pedigree. Among the 26 affected subjects, 15 were homozygous for the novel c.10573delA mutation in the MYO15A gene, 5 were compound heterozygous for the mutation c.10573delA and the novel deletion c.9957_9960delTGAC and one inherited only a single c.10573delA mutant allele, while the other one could not be identified. Given the extensive consanguinity of the pedigree, there might be at least one more deafness locus segregating to explain the condition in some of the subjects whose deafness is not clearly associated with MYO15A mutations, although overlooked environmental causes could not be ruled out. Our findings illustrate a high level of etiological heterogeneity for deafness in the family and highlight some of the pitfalls of genetic analysis of large genes in extended pedigrees, when homozygosity for a single mutant allele is expected.

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Section: Genetic Heterogeneity Of Deafness In Inbred Familymentioning

confidence: 99%

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

et al. 2007

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“…95,96 At least 39 myosin genes, grouped into 12 classes, have been found within the human genome. 97 It contains 66 exons encoding an 11.9 Kb transcript.…”

Section: Genetic Causes Of Nshl In Iran N Mahdieh Et Almentioning

confidence: 99%

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

et al. 2010

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Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to analyze and determine the accurate genetic causes of the impairment. Up to now, 10 genes, namely, GJB2, GJB6, SLC26A4, TECTA, PJVK, Col11A2, Myo15A, TMC1, RDX and microRNA (miR-183), have been studied in an Iranian population. The prevalence of HL in Iran was estimated to be 2-3 times higher than that in other parts of the world. Here, the most common bases of congenital nonsyndromic hearing loss (NSHL) are discussed. We reviewed GJB2, GJB6 (large deletion), TECTA, SLC26A4 and PEJVK mutations, and studied their frequencies and distributions in different ethnic groups in 1934, 500, 121, 80 and 34 unrelated families throughout Iran, respectively. GJB2 mutation was the most common factor causing NSHL, with a mean frequency of 18.17% in the Iranian population. The importance of Iran's geographical location in the migration pathway from west to east through the silk route was also highlighted. SLC26A4 and TECTA mutations were the second and third main reasons of HL and accounted for up to 10 and 4% of prelingual HL in Iran, respectively. Mutations in GJB2, SLC26, TECTA and PJVK genes have an important role in HL in Iran and a screening test should be generated for better intervention and diagnosis programs.

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“…Four of the Tetrahymena myosins contain both MyTH4 and FERM. The MyTH4/FERM coupling exists in at least four other classes of myosins-VII [Chen et al, 1996, Weil et al, 1996, X [Berg et al, 2000], XII [Berg et al, 2001] and XV [Wang et al, 1998]-and in the divergent myoG in Dictyostelium [Titus, 2003]. In Myosins VII and XV, coupling of FERM and MyTH4 has been duplicated.…”

Section: Myosin Genes Encode Divergent Unconventional Myosins In Tetrmentioning

confidence: 99%

Myosin genes in Tetrahymena

Williams

Gavin

2005

Cell Motil. Cytoskeleton

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Association of Unconventional Myosin MYO15 Mutations with Human Nonsyndromic Deafness DFNB3

Cited by 416 publications

References 13 publications

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

Myosin genes in Tetrahymena

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