Lethal netherton syndrome due to homozygous p.Arg371X mutation in SPINK5

Pediatric Dermatology

Volumn 30, Issue 4, 2013, Pages

  Diociaiuti, Andrea ^a   Castiglia, Daniele ^b   Fortugno, Paola ^a   Bartuli, Andrea ^a   Pascucci, Monica ^b   Zambruno, Giovanna ^b   El Hachem, May ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; EARLY DIAGNOSIS; FAILURE TO THRIVE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; HYPERNATREMIA; IMMUNOHISTOCHEMISTRY; INFANT; MALE; NETHERTON DISEASE; PRIORITY JOURNAL; SEPSIS; SERINE PROTEASE INHIBITOR KAZAL TYPE 5 GENE; SKIN BIOPSY;

FATAL OUTCOME; HOMOZYGOTE; HUMANS; INFANT; MALE; NETHERTON SYNDROME; POINT MUTATION; PROTEINASE INHIBITORY PROTEINS, SECRETORY;

EID: 84879845772     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/pde.12076     Document Type: Article

References (8)

1. Chavanas S, Bodemer C, Rochat A, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000; 25: 141-142.
2. Bitoun E, Bodemer C, Amiel J, et al. Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis. Prenat Diagn 2002; 22: 121-126.
3. Capri Y, Vanlieferinghen P, Boeuf B, et al. A lethal variant of Netherton syndrome in a large inbred family. Arch Pediatr 2011; 18: 294-298.
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5. Stoll C, Alembik Y, Tchomakov D, et al. Severe hypernatremic dehydration in an infant with Netherton syndrome. Genet Couns 2011; 12: 237-243.
6. Bitoun E, Chanavas S, Irvine AD, et al. Netherton syndrome: disease expression and spectrum of SPINK5 mutation in 21 families. J Invest Dermatol 2002; 118: 352-361.
7. Lacroix M, Lacaze-Buzy L, Furio L, et al. Clinical expression and new SPINK5 splicing defects in Netherton syndrome: unmasking a frequent founder synonymous mutation and unconventional intronic mutations. J Invest Dermatol 2012; 132: 575-582.
8. Fong K, Akdeniz S, Isi H, et al. New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome. Clin Exp Dermatol 2010; 36: 412-415.