J Clin Neurol.  2014 Jan;10(1):64-68.

Clinical and Molecular Study of the Extracellular Matrix Protein 1 Gene in a Spanish Family with Lipoid Proteinosis

  • 1Department of Clinical Biochemistry, Virgen Macarena University Hospital Saville, Spain.
  • 2Department of Neurology, Virgen Macarena University Hospital Saville, Spain.
  • 3Department of Molecular Biology, Virgen Macarena University Hospital Saville, Spain. lucas@us.es
  • 4Department of Dermatology, Virgen Macarena University Hospital Saville, Spain.
  • 5Department of Pathology, Virgen Macarena University Hospital Saville, Spain.
  • 6Instituto de Biomedicina de Sevilla (IBiS), Virgen del Rocio University Hospital, CSIC, Sevilla, Spain.


Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by a hoarse voice, variable scarring, and infiltration of the skin and mucosa. This disease is associated with mutations of the gene encoding extracellular matrix protein 1 (ECM1). CASE REPORT: This was a clinical and molecular study of a new case of LP with a severe phenotype. A 35-year-old female born to nonconsanguineous parents developed dermatological and extracutaneous symptoms in her 9th month of life. The neurological abnormalities of the disease began to appear at the age of 19 years. Computed tomography revealed cranial calcifications.
The diagnosis of LP was confirmed by histopathological findings and direct sequencing of ECM1. A new homozygous nonsense mutation was identified in exon 7 of ECM1, c.1076G>A (p.Trp359*). This mutation was not detected in 106 chromosomes of healthy individuals with a similar demographic origin. Microsatellite markers around ECM1 were used to construct the haplotype in both the parents and the patient. Reports on genotype-phenotype correlations in LP point to a milder phenotype in carriers of missense mutations in the Ecm1a isoform, whereas mutations in the Ecm1b isoform are thought to be associated with more severe phenotypes. The present findings in a Spanish patient carrying a truncating mutation in exon 7 revealed complete dermatological and neurological manifestations.


ECM1 gene; lipoid proteinosis; mutation; exon 7; phenotype
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