New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the <i>NMNAT1</i> Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform

New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the <i>NMNAT1</i> Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform

This study aims to genetically characterize a two-year-old patient suffering from multiple systemic abnormalities, including skeletal, nervous and developmental involvements and Leber congenital amaurosis (LCA). Genetic screening by next-generation sequencing identified two heterozygous pathogenic v...

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Bibliographic Details
Main Authors: Víctor Abad-Morales, Ana Wert, María Ángeles Ruiz Gómez, Rafael Navarro, Esther Pomares
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:International Journal of Molecular Sciences
Subjects:
Leber congenital amaurosis (LCA)
spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA)
nicotinamide mononucleotide adenylyltransferase 1 (<i>NMNAT1</i>)
transcriptional alteration
inherited retinal diseases
macular coloboma
Online Access:https://www.mdpi.com/1422-0067/22/5/2262

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