Deletion of the XXXX Gene in a 9-Year-Old Obese @entity1 .

@entity1 @entity154 @entity28 @entity7298 @entity1628 @entity245 @entity6038
BACKGROUND: The most common monogenic form of @entity28 is caused by mutations in the @entity1628 ( @entity1628 ) gene. More than 150 mutations have been reported in the @entity1628 gene, the majority being point mutations. Most individuals with @entity1628 gene mutations have early-onset @entity28 , @entity7298 , and increased longitudinal growth. METHODS: A 9-year-old Caucasian @entity1 was referred to genetics for @entity28 , food-seeking behavior, and @entity245 . History and physical exam were not consistent with @entity6038 , but revealed @entity154 . Owing to significant @entity28 and @entity7298 , a @entity6038 methylation test and a microarray were requested. RESULTS: Methlylation testing for @entity6038 was normal. Microarray analysis revealed two changes: (1) A 2.6-Mb deletion at chromosome 18q21.31 was identified and contained several OMIM genes, including the @entity1628 gene, and (2) an 0.87-Mb duplication at chromosome region 16p13.3 was found and contained one gene. Parental samples revealed that the @entity1 's father had the same deletion and duplication. This case appears to be the first with a deletion of 18q21.31 encompassing the @entity1628 gene presenting with features of @entity7298 and @entity28 . CONCLUSIONS: Haploinsufficiency of the @entity1628 gene either through whole gene deletion or nonsense or missense mutations is associated with a significant risk of @entity28 . The case emphasizes both the role of the @entity1628 gene in @entity28 as well as the importance of looking for chromosomal microdeletions/duplications as a cause of @entity28 in @entity1 with @entity154 or @entity245 .
