Confirmed diagnosis genetic obesity: autosomal recessive inherited conditions (homozygous or compound heterozygous)
| Patient | Age (years) | Gender | Medical centre | Gene | Genotype | MCA/ID | Clinical information fitting with the clinical phenotype | Additional information/coincidental phenotypic findings | BMI (kg/m2) | SD (children) | Family history of obesity (if available) |
| 1 | 8 | F | 1 | BBS7 | Compound heterozygous: c.1037G>A(;)1657C>T; p.(Arg346Gln)(;)(Gln553*) | Yes | Postaxial polydactyly fingers and toes Intellectual deficit Hyperphagia onset obesity: 3 years | 38.5 | +6.1 SD | ||
| 2 | 3 | F | 2 | LEPR |
Compound heterozygous: c.1985T>C(;)2168C>T; p.(Leu662Ser)(;)(Ser723Phe) | No | Hyperphagia onset obesity: 2 months | AD: 34 weeks, birth weight of 2605 g (+1.9 SD for age) | 34.5 | +7.5 SD | No family history of obesity |
| 3 | 1 | F | 2 | LEPR | Compound heterozygous: c.2051A>C(;)2627C>A; p.(His684Pro)(;)(Pro876Gln) | Yes | Onset obesity: 3 months Birth weight: 3270 g (−0.4 SD for gestational age) | Cleidocranial dysplasia (RUNX2 mutation identified) | 34.6 | +7.3 SD | No family history of obesity |
| 4 | 17 | M | 2 | MC4R | Compound heterozygous: c.446_450del(;)644T>G; p.(Phe149fs)(;)(Met215Arg) | No | Onset obesity: 1 year | Hypogonadism | 43.8 | – | No family history of obesity |
| 5 | 18 | M | 2 | MC4R | Homozygous: c.779C>A(;) 779C>A; p.(Pro260Gln)(;)(Pro260Gln) | No | Onset obesity: 1 year | Autism | 40.3 | – | No childhood obesity in the parents, current BMI of father 32.9 kg/m2 |
| 6 | 15 | M | 2 | SPG11 |
Compound heterozygous: c.4534dup(;)5857?_ 6477+?del; p.(Asp1512fs)(;) ?† | Yes | Spastic paraparesis IQ: 48 Onset obesity: 3 years | 37.9 | +3.7 SD | Mother and brother obese |
Medical centre: 1=UMC Utrecht Clinical Genetics; 2=CGG Pediatrics.
*A singleasterisk is here used as a symbol for translation termination (stop) codon.
†The intragenic deletion in SPG11, comprising multiple protein coding exons, was identified after additional Sanger sequencing and MLPA copy number analysis at the DNA diagnostics department of the Radboud UMC, Nijmegen, The Netherlands. The NGS platform used at the time the patients in the present study were analysed is not suitable for reliable detection of genomic deletions>6 bp.