New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

K. Fong; S. Akdeniz; H. Isi; M. Taskesen; J. A. Mcgrath; J. E. Lai-Cheong

doi:10.1111/j.1365-2230.2010.03976.x

New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

K. Fong
, S. Akdeniz
, H. Isi
, M. Taskesen
, J. A. Mcgrath
, J. E. Lai-Cheong

Department of Dermatology

Research output: Contribution to journal › Article › peer-review

13 Citations (Scopus)

Abstract

Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.

Original language	English
Pages (from-to)	412-415
Number of pages	4
Journal	Clinical and Experimental Dermatology
Volume	36
Issue number	4
DOIs	https://doi.org/10.1111/j.1365-2230.2010.03976.x
Publication status	Published - 2011 Jun

All Science Journal Classification (ASJC) codes

Dermatology

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10.1111/j.1365-2230.2010.03976.x

Cite this

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abstract = "Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.",

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AU - Fong, K.

AU - Akdeniz, S.

AU - Isi, H.

AU - Taskesen, M.

AU - Mcgrath, J. A.

AU - Lai-Cheong, J. E.

PY - 2011/6

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N2 - Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.

AB - Netherton syndrome (NS) is a rare autosomal recessive genodermatosis caused by loss-of-function mutations in the SPINK5 gene. The clinical features include congenital ichthyosis, trichorrhexis invaginata and atopy. In this study, we report a new homozygous SPINK5 mutation, p.Gln333X, responsible for NS in affected members of two closely related Turkish families, and provide an overview of the genotype-phenotype correlation in this condition.

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New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

Abstract

All Science Journal Classification (ASJC) codes

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