RT Journal Article
T1 Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect
A1 Esperón Moldes, Uxía Saraiva
A1 Ginarte Val, Manuel Javier
A1 Rodríguez Pazos, Laura
A1 Fachal Vilar, Laura
A1 Azaña, José Manuel
A1 Barberá Fons, María
A1 Viejo Díaz, Mónica
A1 Vega Gliemmo, Ana Paula
A1 Esperón Moldes, Uxía Saraiva
K1 Spanish Population
K1 PNPLA1
K1 Founder Effects
K1 C.417_418delinsTC
K1 ARCI
AB Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 individuals, from 10 families, who carried 7 different PNPLA1 mutations. These mutations included 2 missense, 2 frame­shift and 3 nonsense, 3 of them being novel. One of the identified variants, c.417_418delinsTC, was highly prevalent, as it was found in 6 out of 10 (60%) of our ARCI families with PNPLA1 mutations. Clinical manifestations varied significantly among patients, but altered sweating; erythema, palmar hyperlinearity and small whitish scales in flexor-extensor and facial areas were common symptoms. Haplotype analyses of c.417_418delinsTC carriers confirmed the existence of a common ancestor. This study expands the spectrum of the PNPLA1 disease, which causes variants and demonstrates that the c.417_418delinsTC mutation has founder effects in the Spanish population.
PB Society for Publication of Acta Dermato-Venereologica
SN 0001-5555
YR 2019
FD 2019
LK http://hdl.handle.net/10347/21188
UL http://hdl.handle.net/10347/21188
LA eng
NO Esperón-Moldes, U., Val, M., Rodríguez-Pazos, L., Fachal, L., Azaña, J., & Fons, M. et al. (2019). Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect. Acta Dermato Venereologica, 99(10), 894-898. https://doi.org/10.2340/00015555-3227
NO This work was partially supported by Ramón Areces Foundation project (Rare Diseases 2013-056); by Spanish Instituto de Salud Carlos III (ISCIII) (INT15/00070, INT16/00154, INT17/00133) and by Xunta de Galicia (IN607B). UE was supported by a predoctoral fellowship from Xunta de Galicia
DS Minerva
RD 24 abr 2026