ArticleEuropean journal of human genetics : EJHG2009
Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 39 citations in OpenAlex.
- Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.Clinical genetics · 2026Article
- Male Goltz Syndrome due to PostzygoticCase reports in dermatological medicine · 2026Article
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia.Children (Basel, Switzerland) · 2023Article
- Extensive blaschkoid macules and patches since birth.JAAD case reports · 2023Article
- The role of genes and environment in the etiology of congenital diaphragmatic hernias.Current topics in developmental biology · 2023Review
- Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.Indian journal of pediatrics · 2018Article
- Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.European journal of human genetics : EJHG · 2015Article
- Precise regulation of porcupine activity is required for physiological Wnt signaling.The Journal of biological chemistry · 2012Article
- Novel mutation in a child with Goltz syndrome.Indian journal of pediatrics · 2012Article
- Focal dermal hypoplasia: A novel finding in disguise.Journal of oral biology and craniofacial researchArticle
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Authors and funding
14 authors at 12 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Focal dermal hypoplasia (FDH) is an X-linked developmental disorder with male lethality characterized by patchy dermal hypoplasia, skeletal and dental malformations, and microphthalmia or anophthalmia. Recently, heterozygous loss-of-function mutations in the PORCN gene have been described to cause FDH. FDH shows some clinical overlap with the microphthalmia with linear skin defects (MLS) syndrome, another X-linked male lethal condition, associated with mutations of HCCS in the majority of cases. We performed DNA sequencing of PORCN in 13 female patients with the clinical diagnosis of FDH as well as four female patients with MLS syndrome and no mutation in HCCS. We identified PORCN mutations in all female patients with FDH. Eleven patients seem to have constitutional PORCN alterations in the heterozygous state and two individuals are mosaic for the heterozygous sequence change in PORCN. No PORCN mutation was identified in the MLS-affected patients, providing further evidence that FDH and MLS do not overlap genetically. X chromosome inactivation (XCI) analysis revealed a random or slightly skewed XCI pattern in leukocytes of individuals with intragenic PORCN mutation suggesting that defective PORCN does not lead to selective growth disadvantage, at least in leukocytes. We conclude that the PORCN mutation detection rate is high in individuals with a clear-cut FDH phenotype and somatic mosaicism can be present in a significant proportion of patients with mild or classic FDH.
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