Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism

Journal of Investigative Dermatology

Volumn 129, Issue 3, 2009, Pages 776-779

  Titeux, Matthias ^a,b   Mendonça, Vanessa ^c   Décha, Audrey ^a,b   Moreira, Elisabete ^c   Magina, Sofia ^c,d   Maia, Ana ^c   Lacaze Buzy, Laetitia ^e,f   Mejía, José Enrique ^a,b   Torrõo, Luís ^c,d   Carvalho, Filipa ^d   Eça Guimarães, Júlia ^c,d   Hovnanian, Alain ^a,b,e,f  

^a INSERM   (France)

^b UNIVERSITÉ PAUL SABATIER   (France)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

^d UNIVERSITY OF PORTO   (Portugal)

^e Reference Centre for Rare Skin Diseases   (France)

^f CHU PURPAN   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; CONNEXIN 30; DNA;

CASE REPORT; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; DNA SEQUENCE; GAP JUNCTION; GENE IDENTIFICATION; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; ICHTHYOSIS; KERATITIS; LETTER; MALE; MOSAICISM; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN BIOPSY;

BASE SEQUENCE; CHILD, PRESCHOOL; CONNEXINS; DEAFNESS; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; HUMANS; ICHTHYOSIS; KERATITIS; MALE; MOSAICISM; MUTATION, MISSENSE; SYNDROME;

EID: 59949086212     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2008.312     Document Type: Letter

References (15)

1. Bottema CD, Sarkar G, Cassady JD, Ii S, Dutton CM, Sommer SS (1993) Polymerase chain reaction amplification of specific alleles: a general method of detection of mutations, polymorphisms, and haplotypes. Methods Enzymol 218:388-402
2. Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R (1996) Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol 13:105-13
3. Chassaing N, Kanitakis J, Sportich S, Cordier-Alex MP, Titeux M, Calvas P et al. (2006) Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. J Invest Dermatol 126:2715-7
4. Happle R (1997) A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. Arch Dermatol 133:1505-9
5. Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP (2004) Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol 122:1108-13
6. Jonard L, Feldmann D, Parsy C, Freitag S, Sinico M, Koval C et al. (2008) A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. Eur J Med Genet 51:35-43
7. Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S et al. (2007) Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet 81:243-51
8. Mazereeuw-Hautier J, Bitoun E, Chevrant-Breton J, Man SY, Bodemer C, Prins C et al. (2007) Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol 156:1015-9
9. Munro CS, Wilkie AO (1998) Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet 352:704-5
10. Paller AS, Syder AJ, Chan YM, Yu QC, Hutton E, Tadini G et al. (1994) Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med 331:1408-15
11. Poblete-Gutierrez P, Wiederholt T, Konig A, Jugert FK, Marquardt Y, Rubben A et al. (2004) Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest 114:1467-74
12. Restano L, Cambiaghi S, Tadini G (1999) The pattern of inheritance in KID syndrome. Pediatr Dermatol 16:164-5
13. Richard G (2005) Connexin disorders of the skin. Clin Dermatol 23:23-32
14. Sakuntabhai A, Dhitavat J, Burge S, Hovnanian A (2000) Mosaicism for ATP2A2 mutations causes segmental Darier's disease. J Invest Dermatol 115:1144-7
15. Tinschert S, Naumann I, Stegmann E, Buske A, Kaufmann D, Thiel G et al. (2000) Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 8:455-9