A novel locus for autosomal dominant, non-syndromic hearing impairement (DFNA18) maps to chromosome 3q22 immediately adjacent to the DM2 locus

European Journal of Human Genetics

Volumn 9, Issue 3, 2001, Pages 165-170

  Bönsch, Dominikus ^a   Scheer, Petra ^b   Neumann, Cora ^a   Lang Roth, Ruth ^b   Seifert, Eberhard ^b   Storch, Peter ^a   Weiller, Cornelius ^a   Lamprecht Dinnesen, Antoinette ^b   Deufel, Thomas ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

Chromosome 3q22; DFNA18; DM2 locus; Hereditary hearing impairment; Linkage analysis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 3Q; CHROMOSOME MAP; CONTROLLED STUDY; GENE FUNCTION; GENE LOCATION; GENE LOCUS; GENETIC MARKER; HEARING IMPAIRMENT; HUMAN; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; GENES, DOMINANT; GENOTYPE; HEARING DISORDERS; HUMANS; LOD SCORE; MALE; PEDIGREE;

EID: 0035086719     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200612     Document Type: Article

References (33)

1. Genes responsible for human hereditary deafness: Symphony of a thousand
2. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous
3. Connexin 26 mutations in hereditary nonsyndromic sensorineural deafness
4. Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans
5. Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
6. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
7. KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
8. Nonsyndromic hearing impairment is associated with a mutation in DFNA5
9. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
10. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
11. Genetic mapping of a second myotonic dystrophy locus
12. Linkage of proximal myotonic myopathy to chromosome 3q
13. Myotonic dystrophy and proximal myotonic myopathy
14. Proximal myotonic dystrophy-a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?
15. Hearing loss in myotonic dystrophy
16. Genetic and metabolic deafness
17. Lexikon der Syndrome und Fehlbildungen
18. Molekulare Analysen der Heterogenität hereditärer monosymptomatischer Schallempfindungs-schwerhörigkeiten
19. Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome
20. Linkage of a gene for dominant non-syndromic deafness to chromosome 19
21. New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p
22. DFNB 15: Autosomal recessive non-syndromic hearing loss gene-chromosome 3q, 19p digenic recessive inheritance?
23. Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region
24. Genetic heterogeneity of usher syndrome
25. The Usher Syndromes
26. Deafness linked to DFNA2: One locus but how many genes?
27. Expanding complexity in myotonic dystrophy
28. Myotonic dystrophy: Molecular windows on a complex etiology
29. Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy
30. A new locus for autosomal dominant congenital cataracts maps to chromosome 3
31. Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2
32. Mapping of the human CP49 gene and identification of an intragenic polymorphic marker to allow genetic linkage analysis in autosomal dominant congenital cataract