TY - JOUR
T1 - New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome
AU - Fong, K.
AU - Akdeniz, S.
AU - Isi, H.
AU - Taskesen, M.
AU - Mcgrath, J. A.
AU - Lai-Cheong, J. E.
PY - 2011/6
Y1 - 2011/6
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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UR - http://www.scopus.com/inward/citedby.url?scp=79955945037&partnerID=8YFLogxK
U2 - 10.1111/j.1365-2230.2010.03976.x
DO - 10.1111/j.1365-2230.2010.03976.x
M3 - Article
C2 - 21564178
AN - SCOPUS:79955945037
SN - 0307-6938
VL - 36
SP - 412
EP - 415
JO - Clinical and Experimental Dermatology
JF - Clinical and Experimental Dermatology
IS - 4
ER -