ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F21%3A10429273" target="_blank" >RIV/00216208:11110/21:10429273 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/21:00074372 RIV/00064165:_____/21:10429273 RIV/00216224:14110/21:00123482
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=n6_rl-KCTz" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=n6_rl-KCTz</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s12886-021-02013-2" target="_blank" >10.1186/s12886-021-02013-2</a>
Alternative languages
Result language
angličtina
Original language name
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30207 - Ophthalmology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
BMC Ophthalmology
ISSN
1471-2415
e-ISSN
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Volume of the periodical
21
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
7
Pages from-to
249
UT code for WoS article
000660890800001
EID of the result in the Scopus database
2-s2.0-85107334789