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

Funcke, Jan-Bernd; von Schnurbein, Julia; Lennerz, Belinda; Lahr, Georgia; Debatin, Klaus-Michael; Fischer-Posovszky, Pamela; Wabitsch, Martin

doi:10.1186/s40348-014-0003-1

Molecular and Cellular Pediatrics

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.G133Vfs15 p.G112Vfs15	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)	Montague et al. [13]
	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	Chekhranova et al. [17]
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	Mazen et al. [18]
g.13191T>C c.215T>C p.L72S p.L51S	1
g.13191T>C c.215T>C p.L72S p.L51S	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.L161Gfs10 p.L140Gfs10	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
g.13139C>T c.163C>T p.Q55* p.Q34*	Female, 8 years	<0.6 ng/ml	Thakur et al. [23]

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].

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