ArticleEuropean journal of human genetics : EJHG2015
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.Clinical genetics · 2026Article
- Focal Dermal Hypoplasia in Males: A Systematic Review.Dermatology practical & conceptual · 2026Review
- Male Goltz Syndrome due to PostzygoticCase reports in dermatological medicine · 2026Article
- A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.Prenatal diagnosis · 2025Article
- A Long-Term Follow-Up of a Patient with a NovelMolecular syndromology · 2024Article
- The role of genes and environment in the etiology of congenital diaphragmatic hernias.Current topics in developmental biology · 2023Review
- Underlying genetic etiologies of congenital diaphragmatic hernia.Prenatal diagnosis · 2022Review
- Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.Orphanet journal of rare diseases · 2022Article
- CUGC for syndromic microphthalmia including next-generation sequencing-based approaches.European journal of human genetics : EJHG · 2020Article
- Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.Indian journal of pediatrics · 2018Article
- Goltz syndrome in males: A clinical report of a male patient carrying a novelClinical case reports · 2018Article
- A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.American journal of medical genetics. Part A · 2018Article
- Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?European journal of human genetics : EJHG · 2018Article
- Importance of complete phenotyping in prenatal whole exome sequencing.Human genetics · 2018Article
- A non-mosaicMolecular genetics and metabolism reports · 2017Article
- Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.European journal of human genetics : EJHG · 2016Article
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Authors and funding
8 authors.
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Abstract
Variants in PORCN are a cause of Goltz-Gorlin syndrome or Focal Dermal Hypoplasia, an X-linked dominant disorder affecting heterozygous females and until now considered to be embryonic lethal in males. Exome sequencing was performed in a family in which two male siblings were characterized by microphthalmia and additional congenital anomalies including diaphragmatic hernia, spina bifida and cardiac defects. Surprisingly, we identified a maternally inherited variant in PORCN present in both males as well as in two female siblings. This represents the first finding of a PORCN variant in non-mosaic males affected with Goltz-Gorlin syndrome. The apparently asymptomatic mother showed extreme skewing of X-inactivation (90%), an asymptomatic female sibling showed skewing of 88%, and the second female sibling affected with cutis aplasia of the scalp showed X-inactivation considered within the normal range.
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