Netherton syndrome is an
autosomal recessive multisystemic disorder characterised by localised or
generalised congenital ichthyosis, hair shaft abnormalities (trichorrhexis invaginata),
atopic diathesis, immune deficiency and markedly elevated IgE levels. The condition
predominantly affects females. Some infants with Netherton syndrome develop
progressive hypernatremic dehydration, failure to thrive, and enteropathy. These
complications can be fatal. NS is caused by mutations in the SPINK5 gene on
chromosome 5q32, encoding the serine protease inhibitor LEKTI.
Also known as
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
1ml EDTA neonates, 5ml EDTA adults
Disease / group
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Prenatals must be arranged in advance, through a Clinical Genetics department if possible. Amniotic fluid or CV samples should be sent to Cytogenetics for dissecting and culturing, with instructions to forward the sample to the Regional Molecular Genetics laboratory for analysis