An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

doi:10.1093/hmg/ddaa112

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An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Human molecular genetics - 3 Aug 2020

Bedoni Nicola, Quinodoz Mathieu, Pinelli Michele, Cappuccio Gerarda, Torella Annalaura, Nigro Vincenzo, Testa Francesco, Simonelli Francesca, Corton Marta, Lualdi Susanna, Lanza Federica, Morana Giovanni, Ayuso Carmen, Di Rocco Maja, Filocamo Mirella, Banfi Sandro, Brunetti-Pierri Nicola, Superti-Furga Andrea, Rivolta Carlo

Abstract excerpt

We investigated the genetic origin of the phenotype displayed by three children from two unrelated Italian families, presenting with a previously unrecognized autosomal recessive disorder that included a severe form of spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA), as well as some brain anomalies that were visible at the MRI....

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PMID: 32533184
DOI: 10.1093/hmg/ddaa112

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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