Další formáty:
BibTeX
LaTeX
RIS
@article{1816338,
author = {Farolfi, Martina and Cechova, Anna and Ondruskova, Nina and Zídková, Jana and Kousal, Bohdan and Hansikova, Hana and Honzik, Tomas and Liskova, Petra},
article_location = {LONDON},
article_number = {1},
doi = {http://dx.doi.org/10.1186/s12886-021-02013-2},
keywords = {N-linked glycosylation; Congenital disorder of glycosylation; ALG3-CDG; Optic nerve hypoplasia; Arthrogryposis; Transferrin isoelectric focusing; Novel mutation},
language = {eng},
issn = {1471-2415},
journal = {BMC OPHTHALMOLOGY},
title = {ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings},
url = {https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12886-021-02013-2},
volume = {21},
year = {2021}
}
TY - JOUR
ID - 1816338
AU - Farolfi, Martina - Cechova, Anna - Ondruskova, Nina - Zídková, Jana - Kousal, Bohdan - Hansikova, Hana - Honzik, Tomas - Liskova, Petra
PY - 2021
TI - ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
JF - BMC OPHTHALMOLOGY
VL - 21
IS - 1
SP - 1-7
EP - 1-7
PB - BMC
SN - 14712415
KW - N-linked glycosylation
KW - Congenital disorder of glycosylation
KW - ALG3-CDG
KW - Optic nerve hypoplasia
KW - Arthrogryposis
KW - Transferrin isoelectric focusing
KW - Novel mutation
UR - https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12886-021-02013-2
N2 - BackgroundALG3-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 presentationA 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.ConclusionsOur 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.
ER -
FAROLFI, Martina, Anna CECHOVA, Nina ONDRUSKOVA, Jana ZÍDKOVÁ, Bohdan KOUSAL, Hana HANSIKOVA, Tomas HONZIK a Petra LISKOVA. ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings. \textit{BMC OPHTHALMOLOGY}. LONDON: BMC, 2021, roč.~21, č.~1, s.~1-7. ISSN~1471-2415. Dostupné z: https://dx.doi.org/10.1186/s12886-021-02013-2.
|
