Ichthyosis, Follicular Atrophoderma, And Hypotrichosis Caused By Mutations In ST14 Is Associated With Impaired Profilaggrin Processing

October 2008 in “ Journal of Investigative Dermatology ”

Thomas Alef, Serena Torres, Ingrid Haußer, Dieter Metze, Ümit Türsen, Gilles G. Lestringant, Hans Christian Hennies

ichthyosis follicular atrophoderma hypotrichosis ST14 gene matriptase serine protease profilaggrin skin barrier function epidermal differentiation

Studysummary This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer

The study investigated the genetic basis of a syndrome involving ichthyosis, follicular atrophoderma, and hypotrichosis in two consanguineous families from the United Arab Emirates and Turkey. Researchers identified mutations in the ST14 gene, which encodes the serine protease matriptase, as the cause. These mutations impaired profilaggrin processing, crucial for skin barrier function and hair formation, leading to a complete loss of matriptase and affecting skin and hair development. The study involved 14 family members, including six affected individuals, and highlighted the role of matriptase in epidermal differentiation and its importance in maintaining skin and hair health.

View this study on jidonline.org →

Discuss this study in the Community →

Research cited in this study

8 / 8 results

research Autosomal Recessive Ichthyosis With Hypotrichosis Syndrome: Further Delineation Of The Phenotype

55 citations , April 2008 in “Clinical Genetics”

This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.

research Autosomal Ichthyosis With Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice

101 citations , October 2007 in “Journal of Biological Chemistry”

This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.

research Delineation of Matriptase Protein Expression by Enzymatic Gene Trapping Suggests Diverging Roles in Barrier Function, Hair Formation, and Squamous Cell Carcinogenesis

100 citations , May 2006 in “American Journal Of Pathology”

Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.

research Matriptase: Potent Proteolysis on the Cell Surface

165 citations , January 2006 in “Molecular Medicine”

This review highlights the role of matriptase in epithelial differentiation and cancer, noting that unregulated matriptase expression can enhance cancer progression in animal models, but reports no new experimental data.

research Spink5-Deficient Mice Mimic Netherton Syndrome Through Degradation of Desmoglein 1 by Epidermal Protease Hyperactivity

372 citations , December 2004 in “Nature Genetics”

research Epidermal Differentiation: The Role of Proteases and Their Inhibitors

118 citations , January 2004 in “European Journal of Cell Biology”

Balanced protease activity is crucial for healthy skin and hair development.

research Matriptase/MT-SP1 Is Required for Postnatal Survival, Epidermal Barrier Function, Hair Follicle Development, and Thymic Homeostasis

324 citations , May 2002 in “Oncogene”

research The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling and Therapy

179 citations , December 1989 in “Medical Entomology and Zoology”

This article provides a comprehensive review of ichthyoses, including their classification, biochemistry, associated syndromes, and therapeutic approaches, but reports no new clinical findings.