Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype

Hiroshi Yoshihashi, Hirotaka Ohki, Chiharu Torii, Akira Ishiko, Kenjiro Kosaki

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

We report a 46,XY boy with a mild focal dermal hypoplasia phenotype who had both wild-type and mutated copies of the PORCN gene and was, therefore, mosaic for the mutation. He had cutaneous syndactyly, hydronephrosis, and nail dystrophy. Small whitish depigmented spots, which were slightly depressed from the skin surface, were distributed linearly on the trunk and arms. Aside from these findings, streaks of brown-pigmented macules were seen on the dorsal aspect of the legs. Both the linear arrangement of the whitish spots and the streaks of pigmented macules followed the lines of Blaschko. The phenotype of the patient, who did not exhibit cribriform atrophy, telangiectasia or fat herniation, seemed to be much milder than that of typical female patients with focal dermal hypoplasia. Analysis of the genomic DNA extracted from the peripheral lymphocytes revealed a transition 129G>A within exon 1 of PORCN, which leads to a nonsense mutation W43X. The percentage of peripheral lymphocytes carrying a mutation was estimated to be 50% by the subcloning and sequencing of individual clones of the PCR product amplified across the mutation. This patient's case history provides further molecular evidence supporting the concept that "male focal dermal hypoplasia" does exist and that typical features such as telangiectasia and fat herniation are sometimes absent.

Original languageEnglish
Pages (from-to)550-554
Number of pages5
JournalPediatric Dermatology
Volume28
Issue number5
DOIs
Publication statusPublished - 2011 Sep

Fingerprint

Focal Dermal Hypoplasia
Telangiectasis
Phenotype
Mutation
Survival
Fats
Lymphocytes
Syndactyly
Skin
Hydronephrosis
Nonsense Codon
Nails
Atrophy
Exons
Leg
Arm
Clone Cells
Polymerase Chain Reaction
DNA
Genes

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health

Cite this

Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype. / Yoshihashi, Hiroshi; Ohki, Hirotaka; Torii, Chiharu; Ishiko, Akira; Kosaki, Kenjiro.

In: Pediatric Dermatology, Vol. 28, No. 5, 09.2011, p. 550-554.

Research output: Contribution to journalArticle

Yoshihashi, Hiroshi ; Ohki, Hirotaka ; Torii, Chiharu ; Ishiko, Akira ; Kosaki, Kenjiro. / Survival of a male mosaic for PORCN mutation with mild focal dermal hypoplasia phenotype. In: Pediatric Dermatology. 2011 ; Vol. 28, No. 5. pp. 550-554.
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