The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

doi:10.1046/j.1523-1747.2001.01389.x

Article

The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

The Journal of investigative dermatology - 1 Aug 2001

Sprecher E, Chavanas S, DiGiovanna J J, Amin S, Nielsen K, Prendiville J S, Silverman R, Esterly N B, Spraker M K, Guelig E, de Luna M L, Williams M L, Buehler B, Siegfried E C, Van Maldergem L, Pfendner E, Bale S J, Uitto J, Hovnanian A, Richard G

Abstract excerpt

The Comèl-Netherton syndrome is an autosomal recessive multisystemic disorder characterized by localized or generalized congenital ichthyosis, hair shaft abnormalities, immune deficiency, and markedly elevated IgE levels. Life-threatening complications during infancy include temperature and electrolyte imbalance, recurrent infections, and failure to thrive. To study the clinical presentations of the...

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The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

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