Overview of skin diseases linked to connexin gene mutations

International Journal of Dermatology

Volumn 53, Issue 2, 2014, Pages 192-205

  Avshalumova, Lyubov ^a   Fabrikant, Jordan ^b   Koriakos, Angie ^c  

^a Clinical Dermatology   (United States)

^b Department of Dermatology   (United States)

^c University of North Texas Health Science Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30; CONNEXIN 30.3; CONNEXIN 31; CONNEXIN 41; CONNEXIN 43; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BART PUMPHREY SYNDROME; BLINDNESS; DEFORMITY; ECTODERMAL DYSPLASIA; ERYTHROKERATODERMIA VARIABILIS; GAP JUNCTION; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; HEARING IMPAIRMENT; HIDROTIC ECTODERMAL DYSPLASIA; HUMAN; ICHTHYOSIS; KERATITIS; KERATODERMA; KERATODERMA HEREDITARIUM MUTILANS; MISSENSE MUTATION; OCULODENTODIGITAL SYNDROME; PALMOPLANTAR KERATODERMA; PERCEPTION DEAFNESS; PROGNOSIS; SKIN DISEASE; SYNDROME KID;

CONNEXIN 43; CONNEXINS; HUMANS; MUTATION; SKIN DISEASES;

EID: 84892796637     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/ijd.12062     Document Type: Article

References (110)

1. Van Steensel MAM. Gap junction diseases of the skin. Am J Med Gen C 2004; 131C: 12-19.
2. Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Exp Rev Mol Med 2009; 11: 1-18.
3. Sohl G, Nielsen PA, Eiberger J, et al. Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse ortholoques. Cell Comm Adhes 2003; 10: 27-36.
4. Laird DW. Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. J Biol Chem 2008; 283: 2997-3001.
5. Paznekas WA, Boyadjiev SA, Shapiro RE, et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003; 72: 408-418.
6. Bruzzone R, White TW, Paul DL. Connections with connexins: the molecular basis of direct intercellular signaling. Eur J Biochem 1996; 238: 1-27.
7. Willecke K, Eiberger J, Degen J, et al. Structural and functional diversity of connexin genes in the mouse and human genome. J Biol Chem 2002; 383: 725-737.
8. Richards G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-icthyosis-deafness syndrome. Am J Hum Genet 2002; 70: 1341-1348.
9. Van Steensel MA, Van Gel M, Nahuys M, et al. A novel connexin 26 mutation in a patient diagnosed with keratitis-icthyosis-deafness syndrome. J Invest Dermatol 2002; 118: 724-727.
10. Richard G. Connexin disorders of the skin. Adv Dermatol 2001; 17: 243-277.
11. Smith FJD, Morley SM, McLean WH. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol 2002; 118: 530-532.
12. Burgdorf WHC, Plewig G, Wolff HH, et al. Braun-Falco's Dermatology, 3rd edn. USA: Springer publishing, 2009.
13. Lai Cheong JE, Arita K, McGrath A. Genetic diseases of junctions. J Invest Dermatol 2007; 127: 2713-2725.
14. Van Steensel MA, Steijlen PM, Bladergroen RS, et al. A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. J Invest Dermatol 2004; 123: 291-293.
15. Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, et al. Keratitis-icthyosis-deafness syndrome: disease expression and spectrum of connexin 26(GJB2) mutations in 14 patients. Br J Dermatol 2007; 156: 1015-1019.
16. Kellermayer R, Keller M, Ratajczak P, et al. Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. Eur J Dermatol 2005; 15: 75-79.
17. Kikuchi T, Adams JC, Miyabe Y, et al. Potassium ion recycling pathway via gap junction systems in the mammalian cochlea and its interruption in hereditary nonsyndromic deafness. Med Electron Microsc 2000; 33: 51-56.
18. Nyquist GG, Mumm C, Grau R, et al. Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. Am J Med Genetics 2007; 143A: 734-741.
19. Arita AK, Akiyama M, Tsuji Y, et al. Gap junction development in the human fetal hair follicle and bulge region. Br J Dermatol 2004; 150: 429-434.
20. Richard G. Connexin disorders of skin. Clin Dermatol 2005; 23: 23-32.
21. Petit C, Levilliers J, Hardelin JP. Molecular genetics of hearing loss. Annu Rev Genet 2001; 35: 589-646.
22. Lee SW, Tomasetto C, Sager R. Positive selection of candidate tumour-suppressor genes by subtractive hybridization. Proc Natl Acad Sci USA 1991; 88: 2825-2829.
23. Lucke T, Choudhry R, Thom R, et al. Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium. J Invest Dermatol 1999; 112: 354-361.
24. Ito A, Koma Y, Uchino K, et al. Increased expression of connexin 26 in the invasive component of lung squamous cell carcinoma: significant correlation with poor prognosis. Cancer Lett 2006; 234: 239-248.
25. Kanczuga-Koda L, Sulkowski S, Tomaszewski J, et al. Increased expression of connexin 26 and 43 in lymph node metastases of breast cancer. J Clin Pathol 2006; 59: 429-433.
26. Burns FS. A case of generalized keratoderma with unusual involvement of the eyes and nasal and buccal mucous membranes. J Cutan Dis 1915; 33: 255-360.
27. Lazic T, Horii KA, Richard G, et al. A report of GJB2 (N14K) connexin 26 mutation in two patients: a new subtype of KID syndrome. Pediatr Dermatol 2008; 25: 535.
28. Freedberg I, Eisen A, Wolff K, et al. Fitzpatrick's Dermatology in General Medicine, 6th edn, Vol. 1. USA: McGraw Hill Professional publishing, 2003.
29. Mercedes E, Gonzalez MD, Brook E, et al. Keratitis-ichthyosis-deafness (KID) syndrome. Dermatol Online J 2009; 15: 11.
30. Jan AY, Amin S, Ratajczak P, et al. Genetic heterogeneity of KID syndrome: identification of Ax30 gene(GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol 2004; 122: 1108-1113.
31. Kim KH, Kim JS, Piao YJ, et al. Keratitis, ichyoisis and deafness syndrome with development of multiple hair follicle tumors. Br J Dermatol 2002; 147: 139-143.
32. Langer K, Konrad K, Wolff K. Keratitis, icthyosis and deafness (KID) syndrome: report of three cases and review of literature. Br J Dermatol 1990; 122: 689-697.
33. Rycroft RJC, Moynahan EJ, Wells RS. Atypical icthyosiform erythroderma, deafness and keratitis: a report of two cases. Br J Dermatol 1976; 94: 211-217.
34. Mohrenschlager M, Ring J, Abeck D. Additional aspects of keratics, ichthyosis, and deafness (KID) syndrome. Pediatr Dermatol 2004; 21: 518.
35. Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, et al. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol 1996; 13: 105.
36. Zhang XB. A case of keratitis ichthyosis deafness (KID) syndrome associated with Dandy-Walker. J Eur Acad Dermatol Venereol 2007; 21: 681.
37. Janecke AR, Hennies HC, Gunther B, et al. GJB2 mutations in keratitis-icthyosis-deafness syndrome including its fatal form. Am J Med Genet 2005; 133: 128-131.
38. Lancaster L, Fournet LF. Carcinoma of the tongue in a child: report of a case. J Oral Maxillofac Surg 1969; 27: 269-270.
39. Carey AB, Burke WA, Kim H. Malignant fibrous histiocytoma in keratitis, icthyosis, deafness syndrome. J Am Acad Dermatol 1988; 19: 1124-1125.
40. Sahoo B, Handa S, Kaur I, et al. KID syndrome: response to acitretin. J Dermatol 2002; 29: 499.
41. Schnyder UW. Ichthyosis hystrix gravior Typus Rheydt (Ichthyosis hystrix gravior mit praktischer Taubheit). Z Hautkr 1977; 52: 763-766.
42. Gülzow J, Anton-Lamprecht I. Ichthyosis hystrix gravior Typus Rheydt: ein otologisch-dermatologisches Syndrom. Laryng Rhinol Otol (Stuttg) 1977; 56: 949-955.
43. Traupe H. The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy. Berlin: Springer, 1989: 194-197.
44. Baden HP, Bronstein BR. Ichthyosiform dermatosis and deafness. Report of a case and review of the literature. Arch Dermatol 1988; 124: 102-106.
45. König A, Küster W, Berger R, et al. Autosomal dominant inheritance of HID syndrome (hystrix-likeichthyosis with deafness). Eur J Dermatol 1997; 7: 554-555.
46. Anton-Lamprecht I. Biologic compensation for missing protective function of the skin due to congenital lack of tonofibrils. J Invest Dermatol 1976; 66: 259.
47. Anton-Lamprecht I. Ultrastructural criteria for the distinction of different types of inherited ichthyoses. In: Marks R, Dykes PJ, eds. The Ichthyoses. Lancaster: MTP Press, 1978: 71-87.
48. Bart RS, Pumphrey RE. Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. New Engl J Med 1967; 276: 202-207.
49. Alexandrino F, Sartorato EL, Marques-de-Faria AP, et al. G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. Am J Med Genet 2005; 136: 282-284.
50. Richard G, Rouan F, Willoughby CE, et al. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Investig Dermatol 2004; 123: 856-863.
51. Leonard NJ, Krol AL, Bleoo SM, et al. Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. J Med Genet 2005; 42: 588-594.
52. Pisoh T, Bhatia A, Oberlin C. Surgical correction of Pseudo-ainhum in Vohwinkel syndrome. J Hand Surg Br 1995; 20: 338-341.
53. James WD, Berger TG, Elston DM. Andrews' Disease of the Skin Clinical Dermatology, 10th edn. USA: Elsevier Health Sciences, 2006.
54. Maestrini E, Korge BP, Ocaña-Sierra J, et al. A missense mutation in connexin 26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Molec Genet 1999; 8: 1237.
55. Maestrini E, Monaco AP, McGrath JA, et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet 1996; 13: 70.
56. ul Bari A. Keratoderma hereditarium mutilans (Vohwinkel syndrome) in three siblings. Dermatol Online J 2006; 12: 10.
57. Korge BP, Ishida-Yamamoto A, Pünter C, et al. Loricrin mutations in Vohwinkel's keratoderma is unique to the variant with icthyosis. J Invest Dermatol 1997; 109: 604-610.
58. Sensi A, Bettoli V, Zampino MR, et al. Vohwinkel syndrome (mutilating keratoderma associated with craniofacial anomalies). Am J Med Genet 1994; 50: 201-203.
59. Richard G, White TW, Smith LE, et al. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 1998; 103: 393-399.
60. Verbov J. Palmoplantar keratoderma, deafness and atopy. Br J Dermatol 1987; 116: 881-882.
61. Sharland M, Bleach NR, Goberdhan PD, et al. Autosomal dominant palmoplantar hyperkeratosis and sensirineural deafness in three generations. J Med Genet 1992; 29: 50-52.
62. Clouston HR. A hereditary ectodermal dystrophy. Can Med Assoc J 1929; 21: 18-31.
63. Rajagopalan K, Tay CH. Hidrotic ectodermal dysplasia: study of a large Chinese pedigree. Arch Dermatol 1977; 113: 481-485.
64. McNaughton PZ, Pierson DL, Rodman OG. Hidrotic ectodermal dysplasia in a black mother and daughter. Arch Dermatol 1976; 112: 1448-1450.
65. Kibar Z, Dube MP, Powell J, et al. Clouston hidrotic ectodermal dysplasia (HED); genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Eur J Hum Genet 2000; 8: 372-380.
66. Kibar Z, Der Kaloustian KM, Brais B, et al. The gene responsible for Clouston hidrotic ectodermal dysplasis maps to pericentromeric region of chromosome 13Q. Hum Mol Genet 1996; 5: 543-547.
67. Lamartine J, Essenfelder G, Kibar X, et al. Mutations in CJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000; 26: 142-144.
68. Nagy GI, Patel D, Ochalski PA, et al. Connexin 30 in rodent, cat, and human brain: selective expression in gray matter astrocytes, co-localization with connexin 43 at gap junctions and late development appearance. Neuroscience 1999; 88: 447-468.
69. Lautermann J, Frank HG, Jahnke K, et al. Developmental expression patterns of connexin 26 and 30 in the rat cochlea. Dev Genet 1999; 25: 306-311.
70. Marziano NK, Casalotti SO, Portelli AE, et al. Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Hum Mol Genet 2003; 12: 805-812.
71. Gold RG, Scriver CR. Properties of hair keratin in an autosomal dominant form of ectodermal dysplasia. Am J Hum Genet 1972; 24: 549-561.
72. Spitz JL. Genodermatoses: A Clinical Guide to Genetic Skin Disorders, 2nd edn. Philadelphia, PA: Lippincott Williams and Wilkins, 2005: 286.
73. Der Kalustian A. Hidrotic Ectodermal Dysplasia 2. GeneReviews [Internet]. Seattle: University of Washington, 1993-2005.
74. Hassesd SJ, Kincannon JM, Arnold JL. Clouston syndrome: an ectodermal dysplasia without significant dental findings. Am J Hum Genet 1996; 61: 274-276.
75. Hazen PG, Zamora I, Bruner WE, et al. Premature cataracts in a family with hidrotic ectodermal dysplasia. Arch Dermatol 1980; 116: 1385-1387.
76. Tan E, Tay YK. What syndrome is this? Hereditary ectodermal dysplasia. Ped Dermatol 2000; 17: 65-67.
77. Robinson GC, Miller JR, Bensimon JR. Familial ectodermal dysplasia with sensori-neural hearing loss and other anomalies. Pediatrics 1962; 30: 797-802.
78. Melkote S, Dhurat RS, Palav A. Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin. Int J Dermatol 2009; 48: 184-185.
79. Mendes da Costa S. Erythro-et keratodermia variabilis in a mother and a daughter. Acta Derm Venereol 1925; 6: 255-261.
80. Common JE, O'Toole EA, Leigh IM, et al. Clinical and genetic heterogeneity of erythrokeratoderma variabilis. J Investig Dermatol 2005; 125: 920-927.
81. Armstrong DKB, Hutchinson TH, Walsh MY, et al. Autosomal recessive inheritance of erythrokeratoderma variabilis. Ped Dermatol 1997; 14: 355-358.
82. Richard G, Brown N, Rouan F, et al. Genetic heterogeneity of erythrokeratoderma variabilis: a novel mutation in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. J Investig Dermatol 2003; 120: 601-609.
83. Arita K, Akiyama M, Tsuji Y, et al. Erythrokeratoderma variabilis without connexin 31 and connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies. Acta Derm Venereol 2003; 83: 266-270.
84. Gangopadhyay A. Erythrokeratoderma variabilis. Ind J Dermatol Venereol Leprol 2002; 68: 232.
85. Yoo S, Simzar S, Han K. Erythrokeratoderma variabilis successfully treated with topical tazarotene. Ped Dermatol 2006; 23: 382-385.
86. Wilgoss A, Leigh I, Barnes M. Identification of a novel mutation R42P in the gap junction protein β-3 associated with autosomal dominant erythrokeratoderma variabilis. J Investig Dermatol 1999; 113: 1119-1122.
87. Robin AC, Graham-Brown RA, Chave TA. Acitretin for erythrokeratodemia variabilis in a 9-year-old girl. Ped Dermatol 2002; 19: 510-512.
88. Rappaport P, Gpldes J, Goltz R. Erythrokeratodermia variabilis treated with isotretinoin. Arch Dermatol 1986; 122: 441-445.
89. Fixler ZC. Treatment of erythrokeratodermia variabilis with oral synthetic retinoids. Cutis 1980; 25: 300-304.
90. Fixler ZC. Isotretinoin and etretinate therapy in erythrokeratodermia variabilis. A five-year follow-up. Presented before the 26th Annual Meeting of the Noah Worcester Dermatological Society, 1983.
91. Van der Kerkhof PC, Steijlen PM, et al. Acitretin in the treatment of erythrokeratodermia variabilis. Dermatologica 1990; 181: 330-333.
92. Van der Rhee HJ, Van Gelderen HH, Polano MK. Is the use of Tigason in children justified? Acta Derm Venereol 1980; 60: 274-275.
93. Gillespie FD. A hereditary syndrome: dysplasia oculodentodigitalis. Arch Ophthal 1964; 71: 187-192.
94. Gorlin RJ, Cohen MM Jr, Hennekam RCM. Oculodentoosseous dysplasia (oculodentodigital syndrome). Syndromes of the Head and Neck, 4th edn. New York: Oxford University Press, 2001: 290-292.
95. Loddenkemper T, Grote K, Evers S, et al. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 2002; 249: 584-595.
96. Paznekas WA, Karczeski B, Vermeer S, et al. GJA1 mutations, variants, and connexin 43 disfunction as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat 2009; 30: 724-733.
97. Jamsheer A, Wisniewska M, Szpak A, et al. A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia. J Appl Genet 2009; 50: 297-299.
98. Gladwin A, Donnai D, Metcalfe K, et al. Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. Hum Mol Genet 1997; 6: 123-127.
99. Laird DW. Life cycle of connexins in health and disease. Biochem J 2006; 394: 527-543.
100. Kanter HL, Laing JG, Beyer EC, et al. Multiple connexins colocalize in canine ventricular myocyte gap junctions. Circ Res 1993; 73: 344-350.
101. White TW. Unique and redundant connexin contributions to lens development. Science 2002; 295: 319-320.
102. McLachlan E, Plante I, Shao Q, et al. ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation. J Bone Miner Res 2008; 23: 928-938.
103. Brander JM, Houdek P, Husing B, et al. Connexins 26, 30, and 43: differences among spontaneous, chronic, and accelerated human wound healing. J Invest Dermatol 2004; 127A: 152-157.
104. Dermietzel R, Farooq M, Kessler JA, et al. Oligodendrocytes express gap junction proteins connexin32 and connexin45. Glia 1997; 20: 101-114.
105. Shapiro RE, Griffin JW, Stine OC. Evidence for genetic anticipation in the oculodentodigital syndrome. Am J Med Genet 1997; 71: 36-41.
106. Musa FU, Ratajczak P, Sahu J, et al. Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43). Eye 2009; 23: 549-555.
107. Schneider JA, Shaw GG, Van Reken DE. Congenital heart disease in oculodentodigital dysplasia. Va Med 1977; 104: 262-263.
108. Judisch GF, Martin-Casals A, Hanson JW, et al. Oculodentodigital dysplasia; four new reports and a literature review. Arch Ophthal 1979; 97: 878-884.
109. Dean JA, Jones JE, Vash BW. Dental management of oculodentodigital dysplasia: report of case. J Pediatr Orthop B 1998; 7: 23-26.
110. Thomsen M, Schneider U, Weber M, et al. The different appearance of the oculodentodigital dysplasia syndrome. J Pediatr Orthop B 1998; 7: 23-24.