G59A mutation in the GJB2 gene in a Taiwanese family with knuckle pads, palmoplantar keratoderma and sensorineural hearing loss

Clinical and Experimental Dermatology

Volumn 37, Issue 3, 2012, Pages 300-301

  Chen, L H ^a   Lin, H C ^b   Sheu, H M ^a   Chao, S C ^a  

^a NATIONAL CHENG KUNG UNIVERSITY   (Taiwan)

^b P Skin Professional Clinic   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GENOMIC DNA;

ADOLESCENT; AUDIOGRAPHY; BLOOD SAMPLING; CASE REPORT; CONGENITAL DEAFNESS; FAMILY HISTORY; FEMALE; GENE MUTATION; HEARING AID; HEARING LOSS; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; INTERPHALANGEAL JOINT; KNUCKLE PAD; LETTER; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; PAPULE; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN DISEASE; TAIWAN;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CONNEXINS; FAMILY; FEMALE; HAND DEFORMITIES; HEARING LOSS, SENSORINEURAL; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION, MISSENSE; TAIWAN;

EID: 84858440229     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2011.04174.x     Document Type: Letter

References (4)

1. Bart RS, Pumphrey RE,. Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. N Engl J Med 1967; 276: 202-7.
2. Akiyama M, Sakai K, Arita K, et al. A novel GJB2 mutation, p. Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. J Invest Dermatol 2007; 127: 1540-3. (Pubitemid 46762973)
3. Heathcote K, Syrris P, Carter ND, Patton MA,. A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med Genet 2000; 37: 50-1. (Pubitemid 30245875)
4. Huculak C, Bruyere H, Nelson TN, et al. V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Am J Med Genet A 2006; 140: 2394-400. (Pubitemid 44684934)