Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant

Dan-Victor Giurgiutiu; Lesby M Espinoza; Tim C Wood; Barbara R DuPont; Kenton R Holden

doi:10.1177/0883073807307979

Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant

J Child Neurol. 2008 Jan;23(1):112-7. doi: 10.1177/0883073807307979.

Authors

Dan-Victor Giurgiutiu¹, Lesby M Espinoza, Tim C Wood, Barbara R DuPont, Kenton R Holden

Affiliation

¹ Department of Neurosciences, Medical University of South Carolina, Charleston, SC, USA.

PMID: 18184946
DOI: 10.1177/0883073807307979

Abstract

The authors report the rare association of Prader-Willi syndrome and short-chain acyl-CoA dehydrogenase gene variant. Prader-Willi syndrome, associated with paternal chromosome 15q11-q13 silencing, is characterized by neonatal/infantile hypotonia, growth failure, and neurodevelopmental delays in the first 1 to 2 years of life, typically followed by hyperphagia and obesity. Short-chain acyl-CoA dehydrogenase gene variant, with 625 G-to-A and 511 C-to-T changes, impairs C4-C6 fatty acid metabolism and variably causes neonatal/infantile hypotonia with developmental delays. The authors' patient continues to exhibit the classic severe growth failure of early infancy Prader-Willi syndrome at 40 months. Extensive laboratory investigations indicate that the short-chain acyl-CoA dehydrogenase gene variant is likely preventing or delaying the normal expression of the Prader-Willi syndrome phenotype.

Publication types

Case Reports

MeSH terms

Brain Diseases, Metabolic, Inborn / enzymology
Brain Diseases, Metabolic, Inborn / genetics*
Brain Diseases, Metabolic, Inborn / physiopathology
Butyryl-CoA Dehydrogenase / genetics*
Child, Preschool
Chromosomes, Human, Pair 15 / genetics
DNA Mutational Analysis
Developmental Disabilities / enzymology
Developmental Disabilities / genetics
Developmental Disabilities / physiopathology
Female
Gene Silencing / physiology
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics*
Genotype
Growth Disorders / enzymology
Growth Disorders / genetics*
Growth Disorders / physiopathology
Humans
Lipid Metabolism Disorders / enzymology
Lipid Metabolism Disorders / genetics
Lipid Metabolism Disorders / physiopathology
Muscle Hypotonia / enzymology
Muscle Hypotonia / genetics
Muscle Hypotonia / physiopathology
Mutation / genetics
Phenotype
Polymorphism, Genetic / genetics
Prader-Willi Syndrome / enzymology
Prader-Willi Syndrome / genetics*
Prader-Willi Syndrome / physiopathology
Suppression, Genetic / genetics*

Substances

Genetic Markers
Butyryl-CoA Dehydrogenase