Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis.

ABSTRACT:

Background

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.

Conclusions

The diagnosis of LP was confirmed by histopathological findings and direct sequencing of ECM1. A new homozygous nonsense mutati

SUBMITTER: Mondejar R 

PROVIDER: S-EPMC3896652 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature