title: Leptin deficiency and leptin gene mutations in obese children from Pakistan.
abstract: BACKGROUND
  Congenital leptin deficiency is a rare human genetic condition clinically characterized by hyperphagia and acute weight gain usually during the first postnatal year. The worldwide data on this disorder includes only 14 cases and four pathogenic mutations have been reported in the leptin gene.
  
  
  OBJECTIVE
  The objectives of this study were to measure serum leptin levels in obese children and to detect leptin gene mutations in those found to be leptin deficient.
  
  
  RESULTS
  A total of 25 obese children were recruited for the study. Leptin deficiency was detected in nine of them. Leptin gene sequencing identified mutations in homozygous state in all the leptin deficient children. Two cases carried novel mutations (c.481_482delCT and c.104_106delTCA) and each of the remaining seven the previously reported frameshift mutation (c.398delG).
  
  
  CONCLUSIONS
  The results suggest that leptin deficiency caused by mutations in the leptin gene may frequently be seen in obese Pakistani children from Central Punjab.
authors.affiliation: Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore, Pakistan.
authors.forename: Warda
authors.initials: W
authors.lastname: Fatima
authors.forename: Adeela
authors.initials: A
authors.lastname: Shahid
authors.forename: Muhammad
authors.initials: M
authors.lastname: Imran
authors.forename: Jaida
authors.initials: J
authors.lastname: Manzoor
authors.forename: Shahida
authors.initials: S
authors.lastname: Hasnain
authors.forename: Sobia
authors.initials: S
authors.lastname: Rana
authors.forename: Saqib
authors.initials: S
authors.lastname: Mahmood
mesh_terms: D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D020738:Leptin / Q000097:blood / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D008958:Models, Molecular; D008969:Molecular Sequence Data; D009154:Mutation; D009765:Obesity / Q000097:blood / Q000235:genetics*; D010154:Pakistan
chemical_list: D020738:Leptin