UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

Farolfi, M; Cechova, A; Ondruskova, N; Zidkova, J; Kousal, B; Hansikova, H; Honzik, T; (2021) ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings. BMC Ophthalmology , 21 , Article 249. 10.1186/s12886-021-02013-2. Green open access

[thumbnail of ALG3-CDG a patient with novel variants and review of the genetic and ophthalmic findings.pdf]
Preview
Text
ALG3-CDG a patient with novel variants and review of the genetic and ophthalmic findings.pdf - Published Version

Download (941kB) | Preview

Abstract

BACKGROUND: ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neonatal period. CASE PRESENTATION: A 23 months-old girl presented with severe developmental delay, epilepsy, cortical atrophy, cerebellar vermis hypoplasia and ocular impairment. Facial dysmorphism, clubfeet and multiple joint contractures were observed already at birth. Transferrin isoelectric focusing revealed a type 1 pattern. Funduscopy showed hypopigmentation and optic disc pallor. Profound retinal ganglion cell loss and inner retinal layer thinning was documented on spectral-domain optical coherence tomography imaging. The presence of optic nerve hypoplasia was also supported by magnetic resonance imaging. A gene panel based next-generation sequencing and subsequent Sanger sequencing identified compound heterozygosity for two novel variants c.116del p.(Pro39Argfs*40) and c.1060 C > T p.(Arg354Cys) in ALG3. CONCLUSIONS: Our study expands the spectrum of pathogenic variants identified in ALG3. Thirty-three variants in 43 subjects with ALG3-CDG have been reported. Literature review shows that visual impairment in ALG3-CDG is most commonly linked to optic nerve hypoplasia.

Type: Article
Title: ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
Open access status: An open access version is available from UCL Discovery
DOI: 10.1186/s12886-021-02013-2
Publisher version: https://doi.org/10.1186/s12886-021-02013-2
Language: English
Additional information: This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
Keywords: N-linked glycosylation, Congenital disorder of glycosylation, ALG3-CDG, Optic nerve hypoplasia, Arthrogryposis, Transferrin isoelectric focusing, Novel mutation
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10133972
Downloads since deposit
0Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item