A case of mosaic Goltz syndrome (focal dermal hypoplasia) in a male patient

Australasian Journal of Dermatology

Volumn 52, Issue 1, 2011, Pages 48-51

  Lasocki, Anita L ^a   Stark, Zornitza ^b   Orchard, David ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

Author keywords

PORCN gene; Wnt signalling; X linked dominant

Indexed keywords

DNA;

ARM; ARTICLE; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; DNA EXTRACTION; FIBROBLAST; GENE; GENE SEQUENCE; GOLTZ SYNDROME; HERNIA; HUMAN; HYPOPLASIA; KARYOTYPE; LEG; LYMPHOCYTE; MALE; MOLECULAR DIAGNOSIS; NAIL DISEASE; OSTEOPATHIA STRIATA; PORCN GENE; PRESCHOOL CHILD; SCALP; SCANTY HAIR; SCAR; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; THIGH; TOOTH;

CHILD, PRESCHOOL; FOCAL DERMAL HYPOPLASIA; HUMANS; MALE; MOSAICISM;

EID: 79952062056     PISSN: 00048380     EISSN: 14400960     Source Type: Journal    
DOI: 10.1111/j.1440-0960.2010.00662.x     Document Type: Article

References (18)

1. Gorlin RJ, Cohen MMJ, Hennekam RCM. Oxford Monographs on Medical Genetics, vol. 42. Oxford: Oxford University Press, 2001; 571-6.
2. Online Mendelian Inheritance in Man (OMIM)™. Johns Hopkins University, Baltimore, MD. MIM Number: {305600}: {25/11/2008}. Available from URL: http://www.ncbi.nlm.nih. gov/omim/. (Accessed 30 March 2009.)
3. Grzeschik KH, Bornholdt D, Oeffner F et al. Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat. Genet. 2007; 39: 833-5. (Pubitemid 47014490)
4. Willert K, Brown JD, Danenberg E et al. Wnt proteins are lipid-modified and can act as stem cell growth factors. Nature 2003; 423: 448-52. (Pubitemid 36626997)
5. He X, Axelrod JDA. A WNTer wonderland in Snowbird. Meeting Review. Development 2006; 133: 2597-603. (Pubitemid 44177881)
6. Wang X, Reid Sutton V, Omar Peraza-Llanes J et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat. Genet. 2007; 39: 836-8. (Pubitemid 47014493)
7. Maas SM, Lombardi MP, van Essen AJ et al. Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome. J. Med. Genet. 2009; 46: 716-20.
8. Tollefson MM, McEvoy T. Goltz syndrome in a moderately affected newborn boy. Int. J. Dermatol. 2009; 48: 1116-18.
9. Fryssira H, Papathanassiou M, Barbounaki J et al. A male with polysyndactyly, linear skin defects and sclerocornea. Goltz syndrome versus MIDAS. Clin. Dysmorphol. 2002; 11: 277-81.
10. Miteva L. Focal dermal hypoplasia syndrome in a male. Acta Derm. Venereol. 2001; 81: 218-19. (Pubitemid 32800477)
11. Begovic D, Zergollern L. The Goltz-Gorlin syndrome in a male child. Lijec. Vjesn. 1989; 111: 85-8.
12. Mahé A, Couturier J, Mathé C et al. Minimal focal hypoplasia in a man: a case of father-to-daughter transmission. J. Am. Acad. Dermatol. 1991; 25: 879-81.
13. Leoyklang P, Suphapeetiporn K, Wananukul S et al. Three novel mutations in the PORCN gene underlyinig focal dermal hypoplasia. Clin. Genet. 2008; 73: 373-9. (Pubitemid 351386998)
14. Clements SE,Wessagowit V, Lai-Cheong JE et al. Focal dermal hypoplasia resulting from a new nonsense mutations, p.E300X, in the PORCN gene. J. Dermatol. Sci. 2008; 49: 39-42. (Pubitemid 350245735)
15. Harmsen MB, Azzarello-Burri S, Garcia Gonzalez MM et al. Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap. Eur. J. Hum. Genet. 2009; 17: 1207-15.
16. Bornholdt D, Oeffner F, Konig A et al. PORCN mutations in focal dermal hypoplasia: coping with lethality. Hum. Mutat. 2009; 30: E618-28.
17. Clements SE, Mellerio JE, Hoden ST et al. PORCN gene mutations and the protean nature of focal dermal hypoplasia. Br. J. Dermatol. 2009; 160: 1103-9.
18. Froyen G, Govaerts K, Van Esch H et al. Novel PORCN mutations in focal dermal hypoplasia. Clin. Genet. 2009; 76: 535-43.