Mutation Analysis of the CYP4F22 Gene in a Family with Autosomal Recessive Congenital Ichthyosis / 罕见病研究

Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary cornification disorder presented with abnormal skin scaling. In this paper, we used next-generation sequencing to determine the variants in a Chinese ARCI patient. We used sanger sequencing to verify bidirectionally the DNA from the proband and her parents. Results showes that two compound heterozygous variants (c.235G > T and c.641delG) in CYP4F22 gene, and both of the mutations are novel. The parents were heterozygous carriers. The two variants are classified as pathogenic variants based on interpretation guidelines. The compound heterozygous mutations in CYP4F22 gene were the causative mutations responsible for ARCI in proband.

An infant with lamellar ichthyosis induced by CYP4F22 gene mutations / 中华皮肤科杂志

A 1-month-old male infant presented with skin flushing covering with collodion-like membrane all over the body at birth, and experienced gradual skin desquamation thereafter. At the age of 2 months, collodion-like membrane completely peeled off, and the patient presented with obvious scales and dry skin. Skin examination showed generalized dry skin, tense, glossy and transparent plastic wrapper-like membrane remaining on the front chest, large and disk-shaped white scales with an adherent center and free edges inlaid in the skin of the trunk and scalp. Genetic testing showed compound heterozygous mutations in the CYP4F22 gene of the patient, including the mutation c.1137G>A (p.W379X) inherited from his father and the mutation c.467G>A (p.R156H) inherited from his mother. The patient was diagnosed with lamellar ichthyosis.