Peters Plus syndrome (PPS) is a multiple congenital malformation syndrome characterized by abnormalities of the anterior chamber of the eye, disproportionate short stature and characteristic facial signs. Multiple other congenital malformations, such as cleft lip/palate, and a variable developmental delay are associated with PPS. PPS follows an autosomal recessive pattern of inheritance and is caused by loss-of-function mutations in B3GALTL.No genetic heterogeneity is known in PPS. B3GALTL encodes the B3GALTL protein, a glucosyltransferase. Therefore, PPS is one of the large group of congenital disorders of glycosylation. The prevalence of PPS is unknown, but ~100 patients have been reported in the literature to date, from varying ethnic backgrounds.
Chapter. 2059 words. Illustrated.
Subjects: Clinical Genetics
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