Syringocystadenoma Papilliferum in a Patient With Focal Dermal Hypoplasia Due to a Novel PORCN Mutation

Schaffer, Julie V.; Cantatore-Francis, Julie L.; Shin, Helen T.; Rosenman, Karla

doi:10.1001/archdermatol.2008.569

Cited by 9 publications

(6 citation statements)

References 6 publications

(5 reference statements)

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“…Patient 24 with the c.374-15G>A change was previously reported by Schaffer et al (2009). The nucleotide variation in this patient was identified in our laboratory and interpreted as a variant of unknown clinical significance in the diagnostic report.…”

Section: Discussionmentioning

confidence: 58%

“…c Previously reported in the same patient with focal dermal hypoplasia (Schaffer et al, 2009). NA, not applicable.…”

Section: Discussionmentioning

confidence: 85%

“…The nucleotide variation in this patient was identified in our laboratory and interpreted as a variant of unknown clinical significance in the diagnostic report. However, this variant was interpreted by Schaffer et al (2009) to be a pathogenic mutation, based on clinical findings of classical features of FDH along with syringocystadenoma papilliferum. There are no functional studies at the transcriptional level to support the deleterious nature of this variant, and no other unrelated FDH patients have been reported to carry this variant.…”

Section: Discussionmentioning

confidence: 99%

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PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing

Fernandes

Wen

Sutton

et al. 2010

Genetic Testing and Molecular Biomarkers

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Focal dermal hypoplasia (FDH) is an X-linked dominant disorder caused by mutations in the gene PORCN, which encodes a protein required for the secretion and signaling of Wnt proteins. While deletions are responsible for a small percentage of FDH-causing mutations, the vast majority of mutations are single-nucleotide substitutions or small deletions or insertions that can be identified by sequence analysis. In 2007, we implemented a PORCN gene sequencing test for individuals with a clinical diagnosis of FDH. To date, we have detected 12 novel PORCN mutations and 6 previously reported mutations in 53 such unrelated patients. The pathogenic PORCN mutations included nine nonsense mutations, three missense mutations, one small deletion, two small duplications, and three splice-site mutations. Of these mutations, two were found in affected men and were mosaic; one of these was found in three other affected women. The remaining 16 mutations were found only in women. All the mutations detected in women were presumed heterozygous. In addition to the disease-causing mutations, eight nucleotide variants of unknown significance were identified. Further characterization of these variants suggests that four of them are pathogenic mutations. These findings add to the heterogeneity of mutations in the PORCN gene that cause FDH.

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Section: Discussionmentioning

confidence: 58%

“…c Previously reported in the same patient with focal dermal hypoplasia (Schaffer et al, 2009). NA, not applicable.…”

Section: Discussionmentioning

confidence: 85%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing

Fernandes

Wen

Sutton

et al. 2010

Genetic Testing and Molecular Biomarkers

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show abstract

“…The gene encodes an O -acyltransferase that catalyses cysteine N -palmitoylation and serine O -acylation in the endoplasmic reticulum, which allows membrane targeting and secretion of several Wnt proteins that have key roles in embryonic tissue development 12. To date, 71 disease-causing mutations in PORCN associated with Goltz–Gorlin syndrome have been identified 10 11 13 14 15 16 17 18. Here we report on our joint experience of a series of 17 Goltz–Gorlin patients, including an affected male, two vertical transmissions, and one pair of affected siblings without affected parents, and describe both their phenotype and genotype.…”

mentioning

confidence: 99%

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

Maas

Lombardi

Essen

et al. 2009

Journal of Medical Genetics

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“…In 2007, mutations in the PORCN gene (Xp11.23) were identified as the molecular basis for FDH [Grzeschik et al, 2007; Wang et al, 2007] and, to date, 57 different mutations have been reported [Grzeschik et al, 2007; Wang et al, 2007; Clements et al, 2008; Leoyklang et al, 2008; Bornholdt et al, 2009; Clements et al, 2009; Harmsen et al, 2009; Schaffer et al, 2009]. PORCN is homologous to the multi‐pass Drosophila segment polarity gene porcupine ( Porc ), which encodes a putative transmembrane O ‐acyltransferase enzyme in the endoplasmic reticulum (ER).…”

Section: To the Editormentioning

confidence: 99%

Importance of PORCN and Wnt signaling pathways in embryogenesis

Clements

2009

American J of Med Genetics Pt A

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Syringocystadenoma Papilliferum in a Patient With Focal Dermal Hypoplasia Due to a Novel PORCN Mutation

Cited by 9 publications

References 6 publications

PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing

PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing

Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

Importance of PORCN and Wnt signaling pathways in embryogenesis

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