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Novel mutation in NIPAL 4 in a R omanian family with autosomal recessive congenital ichthyosis
Author(s) -
Maier D.,
MazereeuwHautier J.,
Tilinca M.,
Cosgarea R.,
Jonca N.
Publication year - 2016
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12740
Subject(s) - romanian , medicine , pharmacy , library science , family medicine , dermatology , philosophy , computer science , linguistics
Summary Autosomal recessive congenital ichthyosis ( ARCI ), a severe and highly clinically heterogeneous group of mendelian disorders of cornification, is the result of mutations in at least nine genes regulating the epidermal barrier functionality. NIPAL 4 is the second most frequently mutated ARCI gene. We report two adult patients from a nonconsanguineous family of Romanian origin, who had lamellar ichthyosis. A positive in situ transglutaminase 1 activity assay excluded a putative TGM 1 mutation. NIPAL 4 sequencing revealed in both patients a new homozygous missense mutation, c.403A>C, affecting a highly conserved amino acid ( p. Ser135Arg ) and predicted to be deleterious according to in silico analysis. In addition to the ARCI features, the patients had caries and partial edentation. Although delay in dental treatment led to caries progression and extraction of secondary teeth, this finding raises the possibility of a deficiency in enamel mineralization due to NIPAL 4 dysfunction as an Mg 2+ transporter. Evaluating new patients with ARCI provides fruitful clinical and molecular findings.