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CSTA – Autosomal Recessive Exfoliative Ichthyosis

Autosomal recessive exfoliative ichthyosis (AREI) results from biallelic loss-of-function variants in CSTA. We report a 25-year-old man born to consanguineous parents who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis; genetic analysis identified a novel homozygous c.172C>T (p.Arg58Ter) variant in CSTA, consistent with AREI ([PMID:25400170]). Immunostaining showed absence of epidermal cystatin A, and electron microscopy demonstrated reduced cornified envelope thickness and disturbed lamellar lipid bilayers with delayed lamellar body processing, confirming epidermal barrier abnormalities ([PMID:25400170]).

This single proband report provides limited genetic evidence, but concordant functional data support a pathogenic role for CSTA loss-of-function in AREI.

References

  • The British journal of dermatology • 2015 • Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss-of-function mutation in CSTA. PMID:25400170

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Single consanguineous proband with homozygous loss-of-function variant and concordant experimental evidence

Genetic Evidence

Limited

One homozygous LoF variant identified in one individual without further segregation ([PMID:25400170])

Functional Evidence

Moderate

Immunostaining showed absence of cystatin A and ultrastructural analyses demonstrated epidermal barrier abnormalities ([PMID:25400170])