Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A

Pediatric Dermatology

Volumn 30, Issue 5, 2013, Pages

  Krunic, Aleksandar L ^a   Stone, Kristina L ^b   Simpson, Michael A ^b   McGrath, John A ^b  

^a UNIVERSITY OF ILLINOIS   (United States)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

STEFIN A;

ACRAL PEELING SKIN SYNDROME; ARTICLE; CHROMOSOME 3; CLINICAL ARTICLE; CSTA GENE; DNA SEQUENCE; EXOME; FOOT; FRICTION; GENE; GENE LOCUS; HAND; HOMOZYGOSITY; HUMAN; LINKAGE ANALYSIS; MOLECULAR PATHOLOGY; NONSENSE MUTATION; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PRURITUS; SKIN ABRASION; SWEATING; THERMAL EXPOSURE;

BASE SEQUENCE; CODON, NONSENSE; CONSANGUINITY; CYSTATIN A; DERMATITIS, EXFOLIATIVE; FAMILY HEALTH; FEMALE; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PIGMENTATION DISORDERS;

EID: 84883882565     PISSN: 07368046     EISSN: 15251470     Source Type: Journal    
DOI: 10.1111/pde.12092     Document Type: Article

References (5)

1. Pavlovic S, Krunic L, Bulj TK, et al. Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. Pediatr Dermatol 2012; 29: 258-263.
2. Cassidy AJ, van Steensel MA, Steijlen PM, et al. A homozygous missense mutation in TGM5 abolishes transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 2005; 77: 909-917.
3. Oji V, Eckl KM, Aufenvenne K, et al. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unravelling the peeling skin disease. Am J Hum Genet 2010; 87: 1741-1746.
4. Simpson MA, Irving MD, Asilmaz E, et al. Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet 2011; 43: 303-305.
5. Blaydon DC, Nitoiu D, Eckl K-M, et al. Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet 2011; 89: 564-571.