B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

Orna Staretz-Chacham*, Iris Noyman, Ohad Wormser, Abed Abu Quider, Guy Hazan, Iris Morag, Noam Hadar, Kimiyo Raymond, Ohad S. Birk, Carlos R. Ferreira, Arie Koifman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


A congenital disorder of glycosylation due to biallelic mutations in B4GALT1 has been previously reported in only three patients with two different mutations. Through homozygosity mapping followed by segregation analysis in an extended pedigree, we identified three additional patients homozygous for a novel mutation in B4GALT1, expanding the phenotypic spectrum of the disease. The patients showed a uniform clinical presentation with intellectual disability, marked pancytopenia requiring chronic management, and novel features including pulmonary hypertension and nephrotic syndrome. Notably, affected individuals exhibited a moderate elevation of Man3GlcNAc4Fuc1 on serum N-glycan analysis, yet two of the patients had a normal pattern of transferrin glycosylation in repeated analysis. The novel mutation is the third disease-causing variant described in B4GALT1, and the first one within its transmembrane domain.

Original languageEnglish
Pages (from-to)920-926
Number of pages7
JournalClinical Genetics
Issue number6
StatePublished - 1 Jun 2020
Externally publishedYes


FundersFunder number
Morris Kahn Foundation
National Knowledge Center for Rare/Orphan Diseases of the Israel Ministry of Science, Technology and Space


    • cholestasis
    • congenital disorders of glycosylation
    • nephrotic syndrome
    • persistent pulmonary hypertension of the newborn
    • seizures
    • thrombocytopenia


    Dive into the research topics of 'B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature'. Together they form a unique fingerprint.

    Cite this