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Gene: B3GLCT

Green List (high evidence)

IUGR with shortening of the long bones diagnosed antenatally reported.

Individuals with Peters-plus syndrome exhibit ocular features, systemic malformations, and variable degrees of developmental delay. Ocular abnormalities involve the anterior chamber, and in most patients consist of Peters anomaly, which is characterized by corneal clouding and iridolenticulocorneal adhesions. Growth retardation, short stature, and brachydactyly appear to be present in all patients, and developmental delay is frequent, whereas external ear anomalies, cleft lip and/or palate, and cardiac and genitourinary malformations are less common.

B3GLCT transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several biologically important proteins. Biallelic pathogenic variants of B3GLCT cause Peters Plus Syndrome which is characterised by ocular features, systemic malformations and intellectual disability. Developmental delay is observed in about 80% of children and can range from mild to severe.

Multiple studies, summarised in a 2017 review by Oberstein et al. which identified about 100 Peters Plus Syndrome affected individuals with Biallelic pathogenic variants of B3GLCT of diverse ethnic background that have been reported in the literature.

Created: 9 Aug 2024, 6:45 a.m. | Last Modified: 9 Aug 2024, 6:45 a.m.

Panel Version: 1.142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peters-plus syndrome(MIM#261540)

Publications

• 23161355
• 18798333
• 19796186
• 32533185
• 32204707
• 31795264
• 20301637
• 16909395