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CASE REPORT
Year : 2021  |  Volume : 22  |  Issue : 3  |  Page : 267-270

A heterozygous missense mutation of CARD14 gene in a case of Netherton-Like syndrome


1 Department of Dermatology, Amala Institute of Medical Sciences, Thrissur, Kerala, India
2 Department of Pathology, Amala Institute of Medical Sciences, Thrissur, Kerala, India

Correspondence Address:
Surya Ravindran
Department of Dermatology, Amala Institution of Medical Sciences, Thrissur, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_72_20

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Netherton syndrome (NS) is a multi-domain genodermatoses with hair, skin, and immunological abnormalities caused by a monogenic serine protease inhibitor of Kazal type 5 mutation. As it presents with a myriad of overlapping clinical features, it often creates a diagnostic confusion from other congenital erythroderma causes. The molecular basis of NS was investigated in a 7-month-old male child using next-generation sequencing. Sequencing identified an A-to-G transition at producing the missense mutation p.Met238Val in exon 5 of the CARD14 gene. This study suggests the occurrence of the CARD14 gene as a novel missense mutation in NS and suggests that it may be a recurrent abnormality and the probable reason for the atypical features of this genodermatosis presenting as congenital erythroderma.


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