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Title: Novel PORCN mutations in focal dermal hypoplasia
Authors: Froyen, Guido ×
Govaerts, K
Van Esch, Hilde
Verbeeck, J
Tuomi, M-L
Heikkilä, H
Torniainen, S
Devriendt, Koenraad
Fryns, Jean-Pierre
Marynen, Peter
Järvelä, I
Ala-Mello, S #
Issue Date: Dec-2009
Publisher: Munksgaard
Series Title: Clinical Genetics vol:76 issue:6 pages:535-543
Abstract: Froyen G, Govaerts K, Van Esch H, Verbeeck J, Tuomi M-L, Heikkilä H, Torniainen S, Devriendt K, Fryns J-P, Marynen P, Järvelä I, Ala-Mello S. Novel PORCN mutations in focal dermal hypoplasia. Focal dermal hypoplasia (FDH), Goltz or Goltz-Gorlin syndrome, is an X-linked dominant multisystem disorder characterized primarily by involvement of the skin, skeletal system and eyes. We screened for mutations in the PORCN gene in eight patients of Belgian and Finnish origin with firm clinical suspicion of FDH. First, we performed quantitative PCR (qPCR) analysis to define the copy number at this locus. Next, we sequenced the coding regions and flanking intronic sequences of the PORCN gene. Three de novo mutations were identified in our patients with FDH: a 150-kb deletion removing six genes including PORCN, as defined by qPCR and X-array-CGH, and two heterozygous missense mutations; c.992T>G (p.L331R) in exon 11 and c.1094G>A (p.R365Q) in exon 13 of the gene. Both point mutations changed highly conserved amino acids and were not found in 300 control X chromosomes. The three patients in whom mutations were identified all present with characteristic dermal findings together with limb manifestations, which were not seen in our mutation-negative patients. The clinical characteristics of our patients with PORCN mutations were compared with the previously reported mutation-positive cases. In this report, we summarize the literature on PORCN mutations and associated phenotypes.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Human Genome Laboratory
× corresponding author
# (joint) last author

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