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Mutations of transglutaminase‐1 in C hinese patients with autosomal recessive congenital ichthyosis: a case report with clinical and genetic analysis of C hinese cases reported in literature
Author(s) -
Liu J.J.,
Yuan Y.Y.,
Zhang X.Q.,
Li Z.M.,
Xu Y.S.,
Gao S.M.,
Cai J.F.,
Shao X.H.,
Lin X.H.,
Li B.X.
Publication year - 2015
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.12410
Subject(s) - lamellar ichthyosis , congenital ichthyosis , ichthyosis , proband , genetics , medicine , dermatology , compound heterozygosity , mutation , hyperkeratosis , biology , gene
Summary Background Autosomal recessive congenital ichthyosis ( ARCI ) is a heterogeneous group of diseases of keratinization, characterized primarily by abnormal skin scaling over the whole body surface. Recently, ARCI has been designated to include the major forms of lamellar ichthyosis ( LI ), congenital ichthyosiform erythroderma ( CIE ) and harlequin ichthyosis. The first two conditions are the most common major clinical subtypes, and both are caused principally by mutations in the transglutaminase 1 gene, TGM 1 , although other genes may be responsible in some cases. Aim To identify the genetic mutations underlying LI in a Chinese family with LI , and to review all the known TGM 1 mutations in Chinese patients with ARCI . Methods The proband had the severe classic LI phenotype, and was a member of a four‐generation family with close blood relationships. We sequenced the DNA of the patients and close relatives. We also reviewed 13 Chinese patients with ARCI from 8 reported families, comprising 10 patients with LI , 2 with CIE and 1 with bathing suit ichthyosis. Results We characterized 14 different TGM 1 mutations. Six of these were reported in other ethnic groups initially and later in Chinese patients, while the remaining eight were first described in Chinese patients. Of the latter, five have been reported only in Chinese patients, while the remaining three have also been reported in other ethnic groups. Conclusion This study expands the current spectrum on TGM 1 mutation and increases the knowledge of TGM 1 mutation characteristics.