B4GALT1‐congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature. Issue 6 (16th March 2020)

• Record Type: Journal Article
• Authors: Staretz‐Chacham, Orna; Noyman, Iris; Wormser, Ohad; Abu Quider, Abed; Hazan, Guy; Morag, Iris; Hadar, Noam; Raymond, Kimiyo; Birk, Ohad S.; Ferreira, Carlos R.; Koifman, Arie
• Is Part Of: Clinical genetics. Volume 97:Issue 6(2020)
• Page Start: 920
• Page End: 926
• Publication Date: 2020-03-16
• Subjects: cholestasis -- congenital disorders of glycosylation -- nephrotic syndrome -- persistent pulmonary hypertension of the newborn -- seizures -- thrombocytopenia; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13735
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract: 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. Abstract :