PORCN gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: porcupine O-acetyltranferase
  • Precise function unknown
  • Thought to be involved in transferring palmetoleic acid to WNT proteins
  • WNT proteins play critical signalling roles during embryogenesis
Clinical phenotype
(OMIM phenotype no.)
  • Focal dermal hypoplasia (#305600)
  • Also known as Goltz syndrome
  • X-linked dominant
Ocular features
Systemic features
  • In utero lethality for males
  • Dermatological (congenital patchy skin aplasia, congenital nodular fat herniation, papillomas, nail abnormalities)
  • Limb anomalies (ectrodactyly, transverse limb defects, sydactyly, oligodactyly, marked long bone reduction)
  • Craniofacial (facial assymetry, hypoplastic nasal ala, ear abnormalities)
  • Oral and dental (lip and intra-oral papillomas, hypoplastic teeth, cleft lip/palate)
  • Genital (short perineum body, labia minora hypoplasia, vulvar papillomas)
Key investigations
  • B-scan USS to measure axial length to document microphthalmia
  • Electrophysiology
  • MRI brain and orbit
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  Gao X, Hannoush RN. Single-cell imaging of Wnt palmitoylation by the acyltransferase porcupine. Nat Chem Biol. 2014;10(1):61‐68
  2.  Happle R, Lenz W. Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?. Br J Dermatol. 1977;96(2):133‐135
  3.  Larrègue M, Duterque M. Letter: Striated osteopathy in focal dermal hypoplasia. Arch Dermatol. 1975;111(10):1365
  4.  Bostwick B, Fang P, Patel A, Sutton VR. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals. Am J Med Genet C Semin Med Genet. 2016;172C(1):9‐20

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Updated on November 30, 2020

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