A new SPINK5 mutation in a patient with Netherton syndrome: A case report

Pediatric Dermatology

Volumn 29, Issue 4, 2012, Pages 521-522

  Alpigiani, Maria G ^a   Salvati, Pietro ^a   Schiaffino, Maria Cristina ^a   Occella, Corrado ^a   Castiglia, Daniela ^b   Covaciu, Claudia ^b   Lorini, Renata ^a  

^a G GASLINI INSTITUTE   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BIOTIN; BIOTINIDASE;

ADULT; AMINOACIDURIA; BIOTINIDASE DEFICIENCY; BLOOD LEVEL; CASE REPORT; EXON; GENE; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INCIDENCE; MALE; MUSCLE HYPOTONIA; NETHERTON DISEASE; PRIORITY JOURNAL; SHORT SURVEY; SKIN BIOPSY; SKIN DISEASE; SPINK5 GENE; TREATMENT FAILURE;

DNA MUTATIONAL ANALYSIS; EXONS; FACIES; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; MALE; NETHERTON SYNDROME; POINT MUTATION; PROTEINASE INHIBITORY PROTEINS, SECRETORY; YOUNG ADULT;

EID: 84856495008     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/j.1525-1470.2011.01525.x     Document Type: Short Survey

References (5)

1. Cowan TM, Blitzer MG, Wolf B, et al., Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genet Med 2010; 12: 464-470.
2. Bitoun E, Chavanas S, Irvine AD, et al., Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. J Invest Dermatol 2002; 118: 352-361. (Pubitemid 34158493)
3. Pindolia K, Jordan M, Wolf B,. Analysis of mutations causing biotinidase deficiency. Hum Mutat 2010; 31: 983-991.
4. Kilic G, Guler N, Ones U, et al., Netherton syndrome: report of identical twins presenting with severe atopic dermatitis. Eur J Pediatr 2006; 165: 594-597. (Pubitemid 44134218)
5. Tüysüz B, et al., A new SPINK5 donor splice site mutation in siblings with Netherton syndrome. Acta Derm Venereol 2010; 90: 95-96.