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Mutation Analysis of the CYP4F22 Gene in a Family with Autosomal Recessive Congenital Ichthyosis / 罕见病研究
JOURNAL OF RARE DISEASES ; (4): 329-333, 2022.
Artículo en Inglés | WPRIM | ID: wpr-1005023
ABSTRACT
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.

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Idioma: Inglés Revista: JOURNAL OF RARE DISEASES Año: 2022 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Idioma: Inglés Revista: JOURNAL OF RARE DISEASES Año: 2022 Tipo del documento: Artículo