The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 4
Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis
Serap Dökmeci-Emre 1 ,Zihni Ekim Taşkıran 2 ,Ayşe Yüzbaşıoğlu 1-3 ,Gizem Önal 1 ,Ayşe Nurten Akarsu 2 ,Ayşen Karaduman 4 ,Meral Özgüç 1-3
1 Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey
2 Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey
3 Department of Medical Biology and Center for Biobanking and Genomics, Hacettepe University Faculty of Medicine, Ankara, Turkey
4 Deparment of Dermatology and Venereology, Hacettepe University Faculty of Medicine, Ankara, Turkey
DOI : 10.24953/turkjped.2017.04.017 Dökmeci-Emre S, Taşkıran ZE, Yüzbaşıoğlu A, Önal G, Akarsu AN, Karaduman A, Özgüç M. Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis. Turk J Pediatr 2017; 59: 475-482.

Autosomal recessive congenital ichthyosis (ARCI) is a group of inherited keratinization disorders that are characterized by abnormal epidermal keratinization. ARCI patients generally represent serious symptoms including collodion baby phenotype accompanied by dehydration, heat loss, electrolytic imbalance, and sepsis. ARCI shows high degree of clinical and genetic heterogeneity. To date, nine genes were shown to be responsible for ARCI phenotype. One of these genes, patatin-like phospholipase domain containing protein-1 (PNPLA1) was suggested to be involved in the synthesis of ω-O-acylceramides related to epidermal cornified lipid envelope organization. In addition to previously reported PNPLA1 mutations, we report two novel PNPLA1 mutations including one novel missense mutation c.335C>A (p.Ser112Tyr) and one novel deletion mutation c.733_735delTAC (p.Tyr245del) in Turkish ARCI patients from unrelated consanguineous families. We also report previously reported missense mutation c.514G>A (p.Asp172Asn) in Turkish ARCI patients. Novel PNPLA1 mutations were shown to be located in the catalytic patatin domain of PNPLA1 gene. Identification of novel mutations in PNPLA1 gene expands the mutational spectrum in the causative gene. Increase in the total number of cases has high diagnostic value in terms of genotype-phenotype correlation in ARCI patients. Keywords : autosomal recessive congenital ichthyosis (ARCI), PNPLA1, mutation

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