Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.

Autor: Pérez-Cabeza MI; Department of Pediatric Ophthalmology, Málaga Regional University Hospital, Málaga, Spain., Borrás F; Department of Pediatric Ophthalmology, Málaga Regional University Hospital, Málaga, Spain., Moreno-Medinilla EE; Department of Pediatric Neurology, Málaga Regional University Hospital, Málaga, Spain., Bardán-Rebollar D; Department of Maternal and Pediatric Hematology, Málaga Regional University Hospital, Málaga, Spain., Ferrer-López I; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Universidad Autónoma de Madrid, CIBERER, IDIPAZ, Madrid, Spain., Rodríguez-García E; Echevarne Clinical Laboratory, San Juan de Dios Hospital, Córdoba, Spain; Institute of Biomedical Research in Málaga (IBIMA), Málaga, Spain., Jiménez-Machado R; Laboratory of Metabolic Disorders and Newborn Screening Centre of Eastern Andalusia, Málaga Regional University Hospital, Málaga, Spain., Castro-Vega I; Laboratory of Metabolic Disorders and Newborn Screening Centre of Eastern Andalusia, Málaga Regional University Hospital, Málaga, Spain., Benito C; Department of Genetics, Málaga Regional University Hospital, Málaga, Spain., Escudero J; Department of Pediatric Ophthalmology, Málaga Regional University Hospital, Málaga, Spain., Yahyaoui R; Institute of Biomedical Research in Málaga (IBIMA), Málaga, Spain; Laboratory of Metabolic Disorders and Newborn Screening Centre of Eastern Andalusia, Málaga Regional University Hospital, Málaga, Spain. Electronic address: raquelyahyaoui@gmail.com.
Jazyk: angličtina
Zdroj: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2019 Apr; Vol. 23 (2), pp. 102-104. Date of Electronic Publication: 2018 Nov 13.
DOI: 10.1016/j.jaapos.2018.08.008
Abstrakt: Sialidosis is a rare lysosomal storage disease caused by an α-N-acetyl neuraminidase-1 deficiency due to mutations of the NEU1 gene (6p21). Disease severity varies among patients and is linked to the level of residual neuraminidase activity in vivo. At least 40 disease-causing mutations in the NEU1 gene have been reported. Sialidosis occurs in two main clinical variants: type I, the milder form of the disease, and type II, which is subdivided into congenital, infantile, and juvenile forms. We report the clinical, biochemical, and molecular characterization of a patient with infantile sialidosis type II. The abnormal urinary oligosaccharide profile is described for the first time. The genetic characterization of the patient showed two previously unreported missense mutations in the NEU1 gene: p.R78C (c.232C>T) and p.R290Q (c.869G>A).
(Copyright © 2018 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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