1. One kindred with two GGM patents
One kindred with two GGM patents. The two sisters (pedigree 1 in Table 190-3) diagnosed with GGM were the first to be screened for mutations in the SGLT1 gene.9 Both were homozygous for the D28N mutation, and each parent is a carrier for the mutation. A younger sister, screened prenatally for this mutation, also was found to be a carrier.39 A cousin (*) also was screened prenatally and was normal. The extended family tree was provided by our collaborator Dr. Bernard Zabel of the University of Mainz, Germany.
Source: Familial Glucose-Galactose Malabsorption and Hereditary Renal Glycosuria, The Online Metabolic and Molecular Bases of Inherited Disease
Citation: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. The Online Metabolic and Molecular Bases of Inherited Disease; 2014 Available at: Accessed: October 02, 2017
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