Clinical Heterogenity in Patients with Congenital Disord

Human Genome Research

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Abstract

We continue to explore the heterogenous clinical, molecular and biochemical features of Congenital Disorders of Glycosylation. We have published 2 papers; one on a novel mutation of PMM2 in CDG1A in the first identified African American patients ( Tayebi et al., AJMG, 108(3):241-6, 2002) and the other of the neurologic sequelae of stroke-like episodes in a young child with CDG 1A ( Pearl and Krasnewich, J. Child Neurology, 16(6):409-13, 2001. The number of identified children and adults with CDG in the United States is increasing rapidly with a wider variance in the phenotypes. It is becoming clear that management strategies for the unique clinical problems of these individuals need to be developed. The goal of the upcoming year will be to continue to identify and evaluate individual patients with CDG, to explore the clinical and biochemical features of untyped individuals and, through clinical research, build a compendium of clinical management strategies for physicians caring for these affected adults and children.