Autosomal recessive ALOX12B gene and consecutive collodion baby
Krishma Thakur1, Alka Sehgal2, Bharti Goel2
1Obstetrics and Gynecology, GMCH, Chandigarh, India thakur.krishma72@gmail.com.
BMJ Case Reports
|March 21, 2024
Abstract:
Autosomal recessive congenital ichthyosis is a type of inherited ichthyosis which is a rare cluster of genetic disorders leading to defective keratinisation. The combined prevalence for lamellar ichthyosis and congenital ichthyosiform erythroderma is almost 1 per 200 000-300 000 people. Among all the mutations in this gene, missense and frameshift mutations are most common which account for 80% of the cases. Our patient had a mutation in R-type arachidonate 12-lipoxygenase gene (ALOX12B, OMIM*603741).
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