Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.
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.
Giurgiutiu
Dan-Victor
DV
Department of Neurosciences, Medical University of South Carolina, Charleston, SC, USA.
Espinoza
Lesby M
LM
Wood
Tim C
TC
DuPont
Barbara R
BR
Holden
Kenton R
KR
D020739:Brain Diseases, Metabolic, Inborn / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D044926:Butyryl-CoA Dehydrogenase / Q000235:genetics*; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D005260:Female; D020868:Gene Silencing / Q000502:physiology; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006130:Growth Disorders / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D052439:Lipid Metabolism Disorders / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D011218:Prader-Willi Syndrome / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D013489:Suppression, Genetic / Q000235:genetics*
D005819:Genetic Markers; D044926:Butyryl-CoA Dehydrogenase