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Genetic diagnosis of two Netherton syndrome patients without bamboo hair
Author(s): 
Pages: 539-542
Year: Issue:  9
Journal: Journal of Clinical Dermatology

Keyword:  Netherton syndromeichthyosisSPINK5 genegene mutationtrichorrhexis invaginata;
Abstract: Objective: To diagnose atypical Netherton syndrome without bamboo hair(trichorrhexis invaginata), using genetic approaches. Methods: In addition to the collection of patients’ clinical data, scalp and eyebrow hair were examined with a microscopy. Blood samples from the patients and their immediate relatives were used for gene analysis. All the coding exons along with the flanking sequences of the suspected genes(SPINK5, CDSN, KRT1, KRT2, KRT10 and DSG1) were amplified by PCR and sequenced. Results: Although no abnormalities were found in either patient’s hair, patient #1 and his affected sister showed a homozygous missense mutation(c.2260A>T)in the SPINK5 gene, leading to an alteration of p.Lys754*. Patient #1’s uninvolved parents and siblings were carriers of a heterozygous mutation. Meanwhile patient #2 showed compound heterozygous mutations(c.1432C>T and c.1693-2del A), leading to a p.Gln478* alteration and aberrant m RNA splicing. Patient #2’s parents were heterozygous carriers of the corresponding mutations. None of the mutations were detected in 200 ethnically matched normal controls.Both patients had no gene mutations in CDSN, KRT1, KRT2, KRT10 or DSG1. Conclusion: We confirm two cases of Netherton syndrome by genetic approaches. Genetic analysis could be critical in the diagnosis of atypical Netherton syndrome.
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