| References |
|
|
Ahmed ZM,
Morell RJ,
Riazuddin S et al.
(2003)
Mutations of MYO6 are associated with recessive deafness, DFNB37.
American Journal of Human Genetics
72:
13151322.
|
|
|
Belyantseva IA,
Boger ET and
Friedman TB
(2003)
Myosin XVa localizes to the tips of inner ear sensory cell stereocilia and is essential for staircase formation of the hair bundle.
Proceedings of the National Academy of Sciences of the USA
100:
1395813963.
|
|
|
Bitner-Glindzicz M
(2002)
Hereditary deafness and phenotyping in humans.
British Medical Bulletin
63:
7394.
|
|
|
Brobby GW,
Muller-Myhsok B and
Hortsmann RD
(1998)
Connexin 26 R143W mutation associated with recessive nonsyndromic sensoneural deafness in Africa.
New England Journal of Medicine
338:
548550.
|
|
|
Carasquillo MM,
Zlotogora J,
Barges S and
Chakravarti A
(1997)
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
Human Molecular Genetics
6:
21632172.
|
|
|
Collin RWJ,
Chellappa R,
Pauw RJ et al.
(2008)
Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.
Human Mutation
4:
545554.
|
|
|
De Leenheer EM,
Ensink RJ,
Kunst HP et al.
(2002)
DFNA2/KCNQ4 and its manifestations.
Advances in Oto-rhino-laryngology
61:
4146.
|
|
|
del Castillo FJ,
Rodríguez-Ballesteros M,
Alvarez A et al.
(2005)
A novel deletion involving the connexin-30 gene, del (GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 nonsyndromic hearing impairment.
Journal of Medicinal Genetics
42:
588594.
|
|
|
Del Castillo I,
Villamar M,
Moreno-Pelayo MA et al.
(2002)
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
New England Journal of Medicine
346:
243249.
|
|
|
Denoyelle F,
Lina-Granade G,
Plauchu H et al.
(1998)
Connexin 26 gene linked to a dominant deafness.
Nature
393:
319320.
|
|
|
Denoyelle F and
Petit C
(2002)
DFNB9.
Advances in Oto-rhino-laryngology
61:
142144.
|
|
|
Denoyelle F,
Weil D,
Maw MA et al.
(1997)
Prelingual deafness: high prevalence of 30gelG mutation in the connexin 26 gene.
Human Molecular Genetics
6:
21732177.
|
|
|
Estvill X,
Fortina P,
Surray S et al.
(1998)
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
Lancet
351:
391398.
|
|
|
Gabriel HD,
Jung D,
Butzler C et al.
(1998)
Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice.
Journal of Cell Biology
140:
14531461.
|
|
|
Gawron W,
Wikiera B,
Rostkowska-Nadolska B,
Orendorz-Fraczkowska K and
Noczynska A
(2008)
Evaluation of hearing organ in patients with Turner syndrome.
Internationl Journal of Pediatric Otorhinolaryngology
72:
575579.
|
|
|
Gillis LA,
McCallum J,
Kaur M et al.
(2004)
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
American Journal of Human Genetics
75:
610623.
|
|
|
Gorlin RJ,
Toriello HV and
Cohen MM
(1995)
Hereditary hearing loss and its syndromes.
Oxford Monographs on Medical Genetics
28:
337339.
|
|
|
Guven Y,
Rosti RO,
Tuna EB,
Kayserili H and
Aktoren O
(2008)
Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome.
Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics
106:
e33e44.
|
|
|
Juneja SC,
Barr KJ,
Eders GC and
Kidder GM
(1999)
Defects in the germ line and gonads of mice lacking connexin43.
Biology of Reproduction
60:
12631270.
|
|
|
Kamada F,
Kure S,
Kudo T et al.
(2006)
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotypephenotype correlation.
Journal of Human Genetics
51:
455460.
|
|
|
book
Kandel ER,
Schwartz JH and
Jessell TM
(2000)
Principles of Neural Science,
4th edn.
New York: McGraw-Hill.
|
|
|
Kelley PM,
Harris DJ,
Comer BC et al.
(1998)
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
American Journal of Human Genetics
62:
792799.
|
|
|
Kelsell D-P,
Dunlop J,
Stevens HP et al.
(1997)
Connexin 26 hereditary non-syndromic sensorineural deafness.
Nature
387:
8083.
|
|
|
Kochhar A,
Fischer SM,
Kimberling WJ and
Smith RJ
(2007)
Branchio-oto-renal syndrome.
American Journal of Medicinal Genetics A
143A:
16711678.
|
|
|
Krutovskikh V and
Yamasaki H
(2000)
Connexin gene mutations in human genetic diseases.
Mutation Research
462:
197207.
|
|
|
Kubisch C,
Schroeder BC,
Friedrich T et al.
(1999)
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
Cell
96:
437446.
|
|
|
Lench NJ,
Markham AF,
Mueller RF et al.
(1998)
A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2).
Journal of Medicinal Genetics
35:
151152.
|
|
|
Leon PE and
Lalwani AK
(2002)
Auditory phenotype of DFNA1.
Advances in Oto-rhino-laryngology
61:
3440.
|
|
|
Liu XZ,
Xia XJ,
Adams J et al.
(2001)
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness.
Human Molecular Genetics
10:
29452951.
|
|
|
Maestrini E,
Korge BP,
Ocana-Sierra J et al.
(1999)
A missense mutation in Connexin26, D66 H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
Human Molecular Genetics
8:
12371243.
|
|
|
Marchisio P,
Selicorni A,
Pignataro L et al.
(2008)
Otitis media with effusion and hearing loss in children with Cornelia de Lange syndrome.
American Journal of Medicinal Genetics A
146A:
426432.
|
|
|
Morell RJ,
Kim HJ,
Hood LJ et al.
(1998)
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
New England Journal of Medicine
339:
15001505.
|
|
|
Petersen MB,
Wang Q and
Willems PJ
(2008)
Sex-linked deafness.
Clinical Genetics
73:
1423.
|
|
|
Petersen MB and
Willems PJ
(2006)
Non-syndromic, autosomal-recessive deafness.
Clinical Genetics
69:
371392.
|
|
|
Piatto VB,
Nascimento ECT,
Alexandrino F et al.
(2005)
Molecular genetics of nonsyndromic deafness.
Revista Brasileira de Oto-rino-laringo
71:
216223.
|
|
|
Rabionet R and
Estivill X
(1999)
Allele specific oligonucleotide analysis of the common deafness mutation 35delG in connexin 26 (GJB2) gene.
Journal of Medicinal Genetics
36:
260261.
|
|
|
Reaume AG,
de Sousa PA,
Kulkarni S et al.
(1995)
Cardiac malformation in neonatal mice lacking connexin43.
Science
267:
18311834.
|
|
|
Richard G,
Smith LE,
Bailey RA et al.
(1998a)
Mutations in the human connexin gene GJB3 cause erythrokerato-derma variabilis.
Nature Genetics
20:
366369.
|
|
|
Richard G,
White TW,
Smith LE et al.
(1998b)
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplanar keratoderma.
Human Genetics
103:
393399.
|
|
|
Scott DA,
Kraft ML,
Carmi R et al.
(1998)
Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.
Human Mutation
11:
387394.
|
|
|
Steel KP
(1998a)
A new era in the genetics of deafness.
New England Journal of Medicine
339:
15451547.
|
|
|
Steel KP
(1998b)
One connexin, two diseases.
Nature Genetics
20:
319320.
|
|
|
Street VA,
Kallman JC,
Robertson NG et al.
(2005)
A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site-specific vestibular and central oculomotor dysfunction.
American Journal of Medicinal Genetics A
139A:
8695.
|
|
|
ter Heide H,
Bulstra SK,
Reekers A,
Schrander JJ and
Schrander-Stumpel CT
(2002)
Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive SAMS syndrome.
American Journal of Medicinal Genetics
110:
359364.
|
|
|
Van Laer L,
Cryns K,
Smith RJ and
Van Camp G
(2003)
Nonsyndromic hearing loss.
Ear and Hear
24:
275288.
|
|
|
Walsh T,
Walsh V,
Vreugde S et al.
(2002)
From flies eyes to our ears: mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30.
Proceedings of the National Academy of Sciences of the USA
99:
75187523.
|
|
|
Watanabe S,
Umeki N,
Ikebe R and
Ikebe M
(2008)
Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function.
Biochemistry
47:
95059513.
|
|
|
Willems PJ
(2000)
Genetic causes of hearing loss.
New England Journal of Medicine
342:
11011109.
|
|
|
Yan D and
Liu XZ
(2008)
Cochlear molecules and hereditary deafness.
Front Biosci
13:
49724983.
|
|
|
Yildirim N,
Arslanoglu A,
Mahirogullari M,
Sahan M and
Ozkan H
(2008)
Klippel-Feil syndrome and associated ear anomalies.
American Journal of Otolaryngology
29:
319325.
|
|
|
Zelante L,
Gasparini P,
Estivill X et al.
(1997)
Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterranean.
Human Molecular Genetics
6:
16051609.
|
|
|
Zhao HB,
Kikuchi T,
Ngezahayo A and
White TW
(2006)
Gap junctions and cochlear homeostasis.
Journal of Membrane Biology
209:
117186.
|
| Further Reading |
|
|
book
Dallos P,
Popper AN and
Fay RR (eds)
(2001)
The Cochlea.
New York: Springer-Verlag.
|
|
|
book
Kimonis V and
Campbell K
(2000)
"Genetics and Hearing Loss".
In: Berlin CI and
Keats BJB (eds)
Ear and Hearing, Lippincott Williams & Wilkins,
pp. 2223.
San Diego, CA: Singular Publishing GroupThomson Learning.
|
|
|
Saihan Z,
Webster AR,
Luxon L and
Bitner-Glindzicz M
(2009)
Update on Usher syndrome.
Current Opinion in Neurology
22(1):
1927.
|
|
|
Wangemann P
(2006)
Supporting sensory transduction: cochlear fluid homeostasis and endocochlear potential.
Journal of Physiology
44(6):
725733.
|