title: A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.
abstract: The association of obesity, phenotypic abnormalities and mental retardation characterizes syndromic obesity. Its most common form is the Prader-Willi syndrome (PWS-- neonatal hypotonia, poor sucking, delayed psychomotor development, hyperphagia, severe obesity, short stature, small hands and feet, hypogonadism, mild to moderate mental retardation and behavioral disorders). A PWS-like phenotype has been described in patients with chromosome abnormalities involving the chromosome region 6q16.2 that includes the SIM1 gene. Herein we report cytogenetic and gene studies including a screening for the SIM1 gene deletion, performed on 87 patients with PWS-like phenotype, and describe the fifth case of syndromic obesity with an interstitial deletion of the chromosome segment 6q16-q21 and suggest that mutational analysis and further studies of the parental origin of chromosome alterations of 6q16.2 in patients with and without PWS-like phenotype are needed to evaluate possible imprinting effects of SIM1 gene and establish the contribution that alterations in this gene makes to the etiology of syndromic and non-syndromic obesity.
authors.affiliation: Human Genome Study Center, Department of Genetics and Evolutive Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil. mcvarela@ib.usp.br
authors.forename: Monica C
authors.initials: MC
authors.lastname: Varela
authors.forename: Alex Y
authors.initials: AY
authors.lastname: Simões-Sato
authors.forename: Chong A
authors.initials: CA
authors.lastname: Kim
authors.forename: Débora R
authors.initials: DR
authors.lastname: Bertola
authors.forename: Claudia I E
authors.initials: CI
authors.lastname: De Castro
authors.forename: Celia P
authors.initials: CP
authors.lastname: Koiffmann
mesh_terms: D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D009765:Obesity / Q000235:genetics; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D012097:Repressor Proteins; C491094:SIM1 protein, human