Confirmed diagnosis genetic obesity: autosomal dominant inheritance
| 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) | BMI-SD | Family history of obesity |
| 7 | 2 | M | 3 | GNAS |
Heterozygous: c.85C>T; p.(Gln29*) | Yes | Developmental delay Hyperphagia Onset obesity: 1.5 years | 21.4 | +2.9 SD | No family history of obesity, the GNAS mutation was identified in the mother. | |
| 8 | 6 | F | 1 | GNAS |
Heterozygous: c.1096G>A; p.(Ala366Thr) | Yes | Pseudohypoparathyroidism IQ 85 | 18.5 | +2.4 SD | ||
| 9 | 50 | F | 4 | MC3R | Heterozygous: c.31C>T; p.(Gln11*) | No | Hyperphagia Gastric band, followed by gastric bypass | Addison’s disease | 40 | – | |
| 10 | 40 | M | 4 | MC3R |
Heterozygous: c.149T>C; p.(Ile50Thr) | No | Sleeve gastrectomy, followed by single anastomosis duodenal-ilial bypass Onset obesity: 25 years | 50.5 | – | ||
| 11 | 52 | F | 4 | MC3R |
Heterozygous: c.446C>T; p.(Ala149Val) | No | Gastric bypass Onset obesity: 15 years | Special education | 41.7 | – | The MC3R mutation was identified in the brother with obesity. |
| 12 | 50 | M | 4 | MC4R | Heterozygous: c.20G>A; p.(Arg7His) | Yes | Gastric band, followed by gastric bypass | Spina bifida | 44.7 | – | |
| 13 | 14 | F | 5 | MC4R | Heterozygous: c.64A>T; p.(Arg22*) | No | Diabetes mellitus type 2 Onset obesity: 5 years | 37.3 | +38 SD | Mother obese, no segregation analysis performed. | |
| 14 | 15 | F | 2 | MC4R | Heterozygous: c.105C>A; p.(Tyr35*) | No | Onset obesity: 9 years | 36.8 | +3 SD | The MC4R mutation was identified in the mother, but she has a normal weight. | |
| 15 | 2 | F | 2 | MC4R | Heterozygous: c.105C>A; p.(Tyr35*) | No | Onset obesity: 1 year | 20 | +2.7 SD | The MC4R mutation was identified in the mother, but she has a normal weight. | |
| 16 | 14 | F | 6 | MC4R | Heterozygous: c.105C>A; p.(Tyr35*) | No | Onset obesity: since birth | 44.9 | +4.4 SD | ||
| 17 | 48 | F | 7 | MC4R | Heterozygous: c.105C>A; p.(Tyr35*) | No | Onset obesity: 1 year | Birth weight p3 | 41.5 | – | The MC4R mutation was identified in the daughter with obesity, it was not identified in the normal weight father. |
| 18 | 26 | F | 8 | MC4R | Heterozygous: c.105C>A; p.(Tyr35*) | Yes | Onset obesity: 1 year | IQ 79 (VIQ 73) Autism 492 kb deletion 2q13 | 38.3 | – | |
| 19 | 36 | M | 4 | MC4R | Heterozygous: c.105C>A; p.(Tyr35*) | No | Sleeve gastrectomy Onset obesity: 0–1 years | 72.2 | – | ||
| 20 | 61 | V | 4 | MC4R | Heterozygous: c.105C>A; p.(Tyr35*) | No | Gastric bypass | B-cell lymphoma | 40.9 | – | |
| 21 | 5 | M | 9 | MC4R | Heterozygous: c.105C>A; p.(Tyr35*) | No | Early onset obesity | 24.6 | +5.3 SD | ||
| 22 | 7 | F | 10 | MC4R | Heterozygous: c.240C>A; p.(Tyr80*) | No | Onset obesity: 5 years | 28.6 | +4 SD | ||
| 23 | 26 | M | 4 | MC4R | Heterozygous: c.283G>A; p.(Val95Ile) | No | Gastric bypass Onset obesity: 12 years | Umbilical hernia | 40.2 | – | |
| 24 | 5 | M | 11 | MC4R | Heterozygous: c.493C>T; p.(Arg165Trp) | Unknown* | Unknown* | Unknown* | Unknown* | Unknown*. | |
| 25 | 7 | M | 10 | MC4R | Heterozygous: c.719A>G; p.(Asn240Ser) | No | Onset obesity: 2.5 years | 22.6 | +2.9 SD | ||
| 26 | 41 | M | 4 | MC4R | Heterozygous: c.757G>A; p.(Val253Ile) | No | Gastric bypass Onset obesity: 4 years | 50 | – | ||
| 27 | 5 | M | 11 | MC4R | Heterozygous: c.913C>T; p.(Arg305Trp) | No | Hyperphagia Onset obesity: 3 years Length: 127.7 cm (+1.5 SD) Head circumference 56 cm (+2.5 SD) | SNP-array XXY syndrome | 25.3 | +5 SD | No family history of obesity, de novo mutation. |
| 28 | 6 | F | 12 | MKRN3 | Heterozygous: c.482del; p.(Pro161fs) (paternal deletion) | Yes | Hyperphagia Precocious puberty | IQ 75 Synophris, almond-shaped eyes, tapering fingers | 29.9 | +4.5 SD | Both parents overweight. |
| 29 | 23 | M | 13 | PCSK1 | Heterozygous: c.1A>G; p.(Met1?) | Unknown* | Unknown* | Unknown* | Unknown* | Unknown*. | |
| 30 | 33 | F | 4 | PCSK1 | Heterozygous: c.541T>C; p.(Tyr181His) | No | Gastric bypass Onset obesity: 7 years | ADHD | 53.2 | – | |
| 31 | 11 | F | 12 | PCSK1 | Heterozygous: c.541T>C; p.(Tyr181His) | No | Hirsutism Precocious puberty Onset obesity: 2 years | 30 | +3.9 SD | The PCSK1 mutation was identified in the mother with obesity. | |
| 32 | 13 | F | 5 | POMC | Heterozygous: c.206del; p.(Pro69fs) | Yes | Onset obesity: 3 years | Special education Sacral dimple | 43 | +4.3 SD | The POMC mutation was identified in the mother with obesity. |
| 33 | 54 | F | 4 | POMC | Heterozygous: c.605_616delins18; p.(Gln202_Glu267delinsArgAlaGlnAlaAspLeu) | No | Hyperphagia Gastric band, followed by gastric bypass Onset obesity: 12 years | 37.4 | – | ||
| 34 | 25 | M | 4 | POMC | Heterozygous: c.662A>G; p.(Tyr221Cys) | No | Gastric sleeve Onset obesity: 15 years | 56.6 | – | ||
| 35 | 47 | F | 7 | POMC | Heterozygous: c.662A>G; p.(Tyr221Cys) | Yes | Clinical: Pendred syndrome (SLC26A4: neg.) | 44.1 | – | ||
| 36 | 14 | M | 5 | POMC | Heterozygous: c.662A>G; p.(Tyr221Cys) | No | Onset obesity: 8 years | 35.8 | +3.8 SD | ||
| 37 | 60 | M | 4 | POMC | Heterozygous: c.662A>G; p.(Tyr221Cys) | No | Onset obesity: 8 years | Myopia (−8 Dpt) | 39.3 | – | |
| 38 | 6 | F | 1 | POMC | Heterozygous: c.706C>G; p.(Arg236Gly) | No | Onset obesity: 3 years | 26 | +4 SD | The POMC mutation was identified in the mother with obesity. | |
| 39 | 54 | F | 4 | POMC | Heterozygous: c.706C>G; p.(Arg236Gly) | No | Gastric bypass Onset obesity: 20 years | Crohn’s disease | 41.9 | – | |
| 40 | 52 | F | 4 | POMC | Heterozygous: c.706C>G; p.(Arg236Gly) | No | Hyperphagia Gastric bypass Onset obesity: 20 years | 54 | – | ||
| 41 | 44 | F | 4 | POMC | Heterozygous: c.706C>G; p.(Arg236Gly) | No | Sleeve gastrectomy Onset obesity: 5 years | Depression | 70 | – | |
| 42 | 23 | M | 4 | POMC | Heterozygous: c.706C>G; p.(Arg236Gly) | Yes | Onset obesity: 4 years | Special education Autism Macrocephaly (+2.4 SD) | 57 | – | The POMC mutation was not identified in the mother with obesity. |
| 43 | 56 | F | 4 | POMC | Heterozygous: c.706C>G; p.(Arg236Gly) | No | Gastric bypass Onset obesity: 25 years | Mitral prolapse Scoliosis | 39.6 | – | |
| 44 | 10 | M | 14 | POMC | Heterozygous: c.706C>G; p.(Arg236Gly) | No | Onset obesity: 4 years | 28.2 | +3.9SD | No family history of obesity. | |
| 45 | 33 | F | 4 | PTEN | Heterozygous: c.202T>C; p.(Tyr68His) | No | Macrocephaly Onset obesity: 5 years | 57 | – | Obesity not reported Mother thyroid cancer, maternal grandmother and aunt breast cancer. | |
| 46 | 4 | F | 9 | PTEN | Heterozygous: c.512A>G; p.(Gln171Arg) | No | Early onset obesity | 22.6 | +3.8 SD | ||
| 47 | 5 | F | 1 | SIM1 | Heterozygous: c.875_877del; p.(Thr292del) | No | IQ 71 Onset obesity: 2·5 years | 20.8 | +3 SD | ||
| 48 | 46 | F | 4 | SIM1 | Heterozygous: c.1532del;p.(Asn511fs) | No | Gastric band, followed by gastric bypass | 38.6 | – |
Medical centre: 1=UMC Utrecht Clinical Genetics; 2=CGG Pediatrics; 3=Erasmus Clinical Genetics; 4=Vitalys Bariatric Surgery; 5=VUmc Louwesweg Pediatrics; 6=Jeroen Bosch Hospital; 7=CGG Internal Medicine; 8=VUmc Clinical Genetics; 9=UMCG Clinical Genetics; 10=Netherlands Antilles; 11=LUMC Clinical Genetics;12=Heideheuvel Pediatrics; 13=Franciscus Internal Medicine; 14=Franciscus Pediatrics.
*For some patients, the phenotype and BMI were not provided by the physician that requested the diagnostic test.
BMI, body mass index.