PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
Hum Genet
; 142(4): 477-482, 2023 Apr.
Article
en En
| MEDLINE
| ID: mdl-36715754
ABSTRACT
Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of Prss8 knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel PRSS8-related ichthyosis disorder.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Serina Endopeptidasas
/
Ictiosis
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Hum Genet
Año:
2023
Tipo del documento:
Article
País de afiliación:
Arabia Saudita