PORCN gene

Overview
Microphthalmia, anophthalmia, coloboma (MAC)
References

Overview

Gene (OMIM No.)	PORCN (#300651)
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
Inheritance	X-linked dominant
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum Conjunctival and eyelid papillomas Cataract
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 diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	Medline Plus

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References

Gao X, Hannoush RN. Single-cell imaging of Wnt palmitoylation by the acyltransferase porcupine. Nat Chem Biol. 2014;10(1):61‐68
Happle R, Lenz W. Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?. Br J Dermatol. 1977;96(2):133‐135
Larrègue M, Duterque M. Letter: Striated osteopathy in focal dermal hypoplasia. Arch Dermatol. 1975;111(10):1365
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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