Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A

Journal of Dermatological Science

Volumn 58, Issue 3, 2010, Pages 220-222

  Nagy, Nikoletta ^a   Wedgeworth, Emma ^b   Hamada, Takahiro ^c   White, Jonathan M ^b   Hashimoto, Takashi ^c   McGrath, John A ^d  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^c KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d GUY S HOSPITAL   (United Kingdom)

Author keywords

Ectodermal dysplasia; Hidrocystoma; Wnt

Indexed keywords

CLOBETASOL PROPIONATE; CYSTEINE; EMOLLIENT AGENT; GLYCOPYRRONIUM BROMIDE; PERMANGANATE POTASSIUM; TACROLIMUS; WNT10A PROTEIN;

AGED; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CAUTERIZATION; CHALAZION; ECTODERMAL DYSPLASIA; EXON; FAMILY HISTORY; FEMALE; GENE SEQUENCE; GENETIC CODE; HOMOZYGOTE; HUMAN; HYPERHIDROSIS; HYPODONTIA; HYPOTENSION; HYPOTRICHOSIS; INTRON; IONTOPHORESIS; LETTER; NAIL DYSTROPHY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PALMOPLANTAR KERATODERMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN FUNCTION; SCHOPF SCHULZ PASSARGE SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; TREATMENT OUTCOME; XEROSTOMIA;

AGED; BASE SEQUENCE; CODON, NONSENSE; ECTODERMAL DYSPLASIA; EYELID DISEASES; FEMALE; HOMOZYGOTE; HUMANS; KERATODERMA, PALMOPLANTAR; NAIL DISEASES; SYNDROME; WNT PROTEINS;

EID: 77953132557     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2010.03.012     Document Type: Letter

References (11)

1. Schöpf E., Schulz H.J., Passarge E. Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig Art Ser 1971, 7:219-221.
2. Castori M., Ruggieri S., Giamnett L., Annessi G., Zambruno G. Schöpf-Schultz-Passarge syndrome; further definition of the phenotype and genetic considerations. Acta Derm Venereol 2008, 88:607-612.
3. Adaimy L., Chouery E., Megarbane H., Mroueh S., Delague V., Nicolas E., et al. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet 2007, 81:821-828.
4. Nawaz S., Klar J., Wajid M., Aslam M., Tariq M., Schuster J., et al. WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome. Eur J Hum Genet 2009, 17:1600-1605.
5. Bohring A., Stamm T., Spaich C., Haase C., Spree K., Herh U., et al. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet 2009, 85:97-105.
6. van Geel M., Gattas M., Kesler Y., Tong P., Yan H., Tran K., et al. Phenotypic variability associated with WNT10A nonsense mutations. Br J Dermatol 2010, e-pub 15 February.
7. Monk B.E., Piesis S., Soni V. Schöpf-Schulz-Passarge syndrome. Br J Dermatol 1992, 127:33-35.
8. Starink T.M. Eccrine syringofibradenoma: multiple lesions representing a new cutaneous marker of the Schöpf syndrome, and solitary nonhereditary tumors. J Am Acad Dermatol 1997, 36:569-576.
9. Perret C. Schöpf syndrome. Br J Dermatol 1989, 120:131-132.
10. Katoh M. Networking of WNT, FGF, Notch, BMP, and Hedgehog signaling pathways during carcinogenesis. Stem Cell Rev 2007, 3:30-38.
11. Logan C.Y., Nusse R. The Wnt signaling pathway in development and disease. Annu Rev Cell Dev Biol 2004, 20:781-810.