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Table 1 Summary of patients reported to carry leptin mutations

From: Monogenic forms of childhood obesity due to mutations in the leptin gene

Mutation Reported patients Serum leptin level Reference
g.13374del G
c.398del G
p.G133Vfs*15
p.G112Vfs*15
30
Female, 8 years 0.1 to 1.0 ng/ml (close to detection limit) Montague et al. [13]
Male, 2 years 0.4 to 0.7 ng/ml (close to detection limit)
Male, 3 years Below detection limit Farooqi et al. [5]
Female, 5 years Below detection limit Gibson et al. [24]
Gender and age not specified Not reported Farooqi [25]
Gender and age not specified Not reported
Gender and age not specified Not reported
Female, 5 months Below detection limit Fatima et al. [21]
Female, 2 years 0.1 ng/ml
Female, 2 years Below detection limit
Female, age not specified Below detection limit
Female, age not specified Below detection limit
Male, 1 year 0.5 ng/ml
Male, 7 years Below detection limit
Male, 7 years Below detection limit
Male, 12 years Below detection limit
Female, 8 months 0.8 ng/ml Saeed et al. [22]
Female, 8 months 1.0 ng/ml
Female, 8 months Below detection limit
Female, 2 years Below detection limit
Male, 8 months Below detection limit
Male, 1 year 0.5 ng/ml
Male, 1 year 5 months 0.7 ng/ml
Male, 3 years 4 months 0.7 ng/ml
Male, 7 years 0.9 ng/ml
Female, age not specified Below detection limit Saeed et al. [26]
Female, age not specified Below detection limit
Female, age not specified Below detection limit
Female, age not specified Below detection limit
Male, age not specified Below detection limit
g.13289C>T
c.313C>T
p.R105W
p.R84W
5
Female, 6 years 1.1 ng/ml Strobel et al. [15]
Female, 34 years 1.3 to 1.6 ng/ml
Male, 22 years 0.9 to 1.2 ng/ml
Female, 30 years 0.6 ng/ml Ozata et al. [27]
Male, 5 years 1 month Not reported Paz-Filho et al. [28]
g.13398C>G
c.422C>G
p.S141C
p.S120C
2
Gender and age not specified Not reported Chekhranova et al. [17]
Gender and age not specified Not reported
g.13285C>A
c.309C>A
p.N103K
p.N82K
2
Female, 7 years 1.3 ng/ml Mazen et al. [18]
Male, 3 years 1.1 ng/ml
g.13191T>C
c.215T>C
p.L72S
p.L51S
1
Female, 14 years 0.4 ng/ml (at detection limit) Fischer-Posovszky et al. [20]
g.10839_10841del TCA
c.104_106del TCA
p.I35del
p.I14del
1 to 2 (probable overlap)
Female, 7 months 3.6 ng/ml Fatima et al. [21]
Female, 1 year 6 months Below detection limit Saeed et al. [22]
g.13457_13458del CT
c.481_482del CT
p.L161Gfs*10
p.L140Gfs*10
1
Male, 1 year 6 months 0.2 ng/ml Fatima et al. [21]
g.13139C>T
c.163C>T
p.Q55*
p.Q34*
1
Female, 8 years <0.6 ng/ml Thakur et al. [23]
  1. For the mature leptin protein, the chosen nomenclature is not consistent with the HGVS recommendations. All sequence information is based on [Ensembl:ENSG00000174697, Ensembl:ENST00000308868].