A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review

Pathogenic variants in FCSK cause Congenital Disorder of Glycosylation with Defective Fucosylation-2 (FCSK-CDG; MIM: 618,324). It is a rare autosomal recessive genetic disease caused by defects in the L-fucose kinase, which is necessary for the fucose salvage pathway. Herein, we report two novel var...

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Published in:European journal of medical genetics 2022-08, Vol.65 (8), p.104535-104535, Article 104535
Main Authors: Manoochehri, Jamal, Kamal, Neda, Khamirani, Hossein Jafari, Zoghi, Sina, Haghighi, Maryam Fazelzadeh, Goodarzi, Hamed Reza, Bagher Tabei, Seyed Mohammad
Format: Article
Language:English
Subjects:
Congenital disorder of glycosylation
FCSK
FCSK-CDG
Fucokinase whole-exome sequencing
Intellectual disability
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Summary:Pathogenic variants in FCSK cause Congenital Disorder of Glycosylation with Defective Fucosylation-2 (FCSK-CDG; MIM: 618,324). It is a rare autosomal recessive genetic disease caused by defects in the L-fucose kinase, which is necessary for the fucose salvage pathway. Herein, we report two novel variants in an Iranian patient, the fourth individual with FCSK-CDG described in the literature. Two homozygous variants in FCSK (rs376941268; NM_145059.3: c.379C > A, p. Leu127Met and rs543223292; NM_145059.3: c.394G > C, p. Asp132His) were identified in the proband. Sanger sequencing conducted on his unaffected parents revealed that they were heterozygous for the same variants. The proband, a four-and-a-half year old Iranian male born to consanguineous parents, manifested Intellectual disability, growth delay, ophthalmic abnormalities, seizures, speech disorder, and feeding difficulties.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2022.104535