Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis
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 im...
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| Format: | Article |
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Hacettepe University Institute of Child Health
2017-08-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/1018 |
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| author | Serap Dökmeci-Emre Zihni Ekim Taşkıran Ayşe Yüzbaşıoğlu Gizem Önal Ayşe Nurten Akarsu Ayşen Karaduman Meral Özgüç |
| author_facet | Serap Dökmeci-Emre Zihni Ekim Taşkıran Ayşe Yüzbaşıoğlu Gizem Önal Ayşe Nurten Akarsu Ayşen Karaduman Meral Özgüç |
| author_sort | Serap Dökmeci-Emre |
| collection | DOAJ |
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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.
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| format | Article |
| id | doaj-art-7cef93f76007490eba129dd67fa3871d |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2017-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-7cef93f76007490eba129dd67fa3871d2025-08-20T02:01:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212017-08-0159410.24953/turkjped.2017.04.017Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosisSerap Dökmeci-Emre0Zihni Ekim Taşkıran1Ayşe YüzbaşıoğluGizem Önal2Ayşe Nurten Akarsu3Ayşen Karaduman4Meral ÖzgüçDepartment of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.Deparment of Dermatology and Venereology, Hacettepe University Faculty of Medicine, Ankara, Turkey. 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. https://turkjpediatr.org/article/view/1018PNPLA1autosomal recessive congenital ichthyosis (ARCI)mutation |
| spellingShingle | Serap Dökmeci-Emre Zihni Ekim Taşkıran Ayşe Yüzbaşıoğlu Gizem Önal Ayşe Nurten Akarsu Ayşen Karaduman Meral Özgüç Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis The Turkish Journal of Pediatrics PNPLA1 autosomal recessive congenital ichthyosis (ARCI) mutation |
| title | Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis |
| title_full | Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis |
| title_fullStr | Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis |
| title_full_unstemmed | Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis |
| title_short | Identification of two novel PNPLA1 mutations in Turkish families with autosomal recessive congenital ichthyosis |
| title_sort | identification of two novel pnpla1 mutations in turkish families with autosomal recessive congenital ichthyosis |
| topic | PNPLA1 autosomal recessive congenital ichthyosis (ARCI) mutation |
| url | https://turkjpediatr.org/article/view/1018 |
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