Table 1. The mutations in the ADCY3 gene and the phenotypes of the previously reported cases and our patient .

Patients	Age (year)	Sex	Genetic evaluation	Clinical evaluation
1-7 (7)	NA	NA	Homozygous c.2433-1G>A	3 cases: type 2 DM 1 case: impaired glucose tolerance 1 case: impaired fasting glucose 2 cases: normal
8 (10)	15	F	Homozygous c.3315del (frameshift mutation) (p.Ile1106Serfs*3)	87 kg/150 cm (BMI: 38.7) (BMI SDS: +3.5 SDS) Hyperphagia Anosmia Slight to moderate intellectual disability Secondary amenorrhea (menarche: 14 y) Dyslipidemia, IR
9 (10)	6	M	Homozygous c.2578-1G>A (splicing mutation)	52 kg/137 cm (BMI: 28) (BMI SDS: +6.5) Hyperphagia Anosmia Obesity in parents
10 (10)	6	M	Homozygous c.191A>T (a nonsynonymous missense mutation) (p.Asn64Ile)	49 kg/132 cm (BMI: 28.1) (BMI SDS: +6.5) Hyperphagia Hypoosmia Slight to moderate intellectual disability
11 (10)	NA	F	Homozygous c.191A>T (a nonsynonymous missense mutation)	BMI: 32.8 kg/m2 Hyperphagia Hypoosmia
12 (10)	11	M	Compound heterozygous c.1268del (frameshift mutation) (p.Gly423Alafs*19) c.3354_3356del (an amino acid deletion mutation) (p.Phe1118del)	89 kg/154 cm (BMI: 37.8) (BMI SDS: +4.6) Hyperphagia Anosmia
13 (the current case)	0.9	F	Homozygous c.1102G>A(p.Asp368Asn)	Early onset severe obesity Hyperphagia Insulin resistance Neuromotor developmental delay Blount disorder

NA: not available, M: male, F: female, y: year, BMI: body mass index, DM: diabetes mellitus, IR: insulin resistance, SDS: standard deviation score