Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey

Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey

Authors

  • Özge Zorlu Tekirdağ Namık Kemal University Medical Faculty, Dermatology and Venereology Department, Tekirdağ, Turkey
  • Semih Aşıkovalı Tekirdağ Namık Kemal University Medical Faculty, Department of Medical Genetics, Tekirdağ, Turkey https://orcid.org/0000-0002-6589-3239

Keywords:

ALOX12B, autosomal recessive congenital ichthyosis, sef-improving collodion ichthyosis, collodion membrane

References

Hotz A, Kopp J, Bourrat E, et al. Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients. Genes (Basel). 2021;12(1):80. DOI: 10.3390/genes12010080. PMID: 33435499.

Vahlquist A, Bygum A, Gånemo A, et al. Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients. J Invest Dermatol. 2010;130(2):438–443. DOI: 10.1038/jid.2009.346. PMID: 19890349.

Harting M, Brunetti-Pierri N, Chan CS, et al. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol. 2008;144(3):351–356. DOI: 10.1001/archderm.144.3.351. PMID: 18347291.

Simpson JK, Martinez‐Queipo M, Onoufriadis A, et al. Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol. 2020;182(3):729–737. DOI: 10.1111/bjd.18211. PMID: 31168818.

Raghunath M, Hennies HC, Ahvazi B, et al. Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol. 2003;120(2):224–228. DOI: 10.1046/j.1523-1747.2003.12032.x. PMID: 12542526.

Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. DOI: 10.1038/gim.2015.30. PMID: 25741868.

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Published

2025-07-31

How to Cite

1.
Zorlu Özge, Aşıkovalı S. Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey. Dermatol Pract Concept. 2025;15(3):5331. doi:10.5826/dpc.1503a5331

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