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Selected genetic syndromes associated with obesity[1-3]

Selected genetic syndromes associated with obesity[1-3]
Syndrome MIM phenotype Locus Gene Obesity onset (type) Clinical features
Albright hereditary osteodystrophy (pseudohypoparathyroidism type 1a) 103580 20q13.2 GNAS1 Early (generalized) Short stature, short metacarpals and metatarsals, round facies, delayed dentition, ±hypocalcemia and/or subcutaneous calcium or bone deposition (osteoma cutis), precocious puberty, mild cognitive deficit.
Alström 203800 2p13 ALMS1 Age 2 to 5 years (central) Blindness, deafness, acanthosis nigricans, chronic nephropathy, type 2 diabetes, cirrhosis, primary hypogonadism in males only, normal cognition.
Bardet-Biedl syndrome 209900 11q13 BBS1 Age 1 to 2 years (central)

Intellectual disability, hypotonia, retinitis pigmentosa, polydactyly, hypogonadism±glucose intolerance, deafness, kidney disease.

Responds to treatment with setmelanotide*[3].
615981 16q21 BBS2
600151 3p12-q13 BBS3 (ARL6)
615982 15q22.3-q23 BBS4
615983 2q31 BBS5
605231 20p12 BBS6 (MKKS)
615984 4q27 BBS7
615985 14q32 BBS8 (TTC8)
615986 7p14 BBS9
615987 12q BBS10
615988 9q33.1 BBS11 (TRIM32)
615989 4q27 BBS12
615990 17q23 BBS13 (MKS1)
615991 12q21.3 BBS14 (CEP290)
615992 2p15 BBS15 (C2ORF86)
Beckwith-Wiedemann 130650 11p15.5 in most cases; deregulation of imprinted genes including IGF2 Multiple – Hyperinsulinemia, hypoglycemia, hemihypertrophy, intolerance of fasting.
Carpenter 201000 6p11 RAB23 (Central) Intellectual disability, short stature, brachycephaly, polydactyly, syndactyly of feet, cryptorchidism, umbilical hernia, high-arched palate, hypogonadism in males only.
Cohen 216550 8q22 COH1 (VPS13B) Mid-childhood (central) Intellectual disability, microcephaly, small hands and feet, cryptorchidism, hypotonia and failure to thrive in infancy, prominent central incisors; long, thin fingers and toes.
Prader-Willi 176270 15q

NDN

SNRPN		 Age 1 to 3 years (generalized) Early growth faltering followed by hyperphagia and increased weight gain by 2 to 3 years. Mild to moderate cognitive deficit, microcephaly, short stature, hypotonia, almond-shaped eyes, high-arched palate, narrow hands and feet, delayed puberty (but premature adrenarche).
Listed conditions represent only a select list of genetic syndromes associated with obesity.
* Setmelanotide, a melanocortin 4 receptor agonist, is available for the treatment of obesity due to Bardet-Biedl syndrome or mutations (confirmed by genetic testing) in the POMC, PCSK1, or LEPR (leptin receptor) genes[3]. Refer to UpToDate content on genetic contributions to obesity.
References:
  1. Kaur Y, de Souza RJ, Gibson WT, Meyre D. A systematic review of genetic syndromes with obesity. Obes Rev 2017; 18:603.
  2. Leibel RL, Chua SC, Rosenbaum M. Obesity. In: The Metabolic and Molecular Bases of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, Valle D (Eds), McGraw-Hill 2001. p.3965.
  3. Imcivree (setmelanotide) injection, for subcutaneous use. US FDA approved product information; Rhythm Pharmaceuticals; June 2020. Available at: https://www.accessdata.fda.gov/drugsatfda_docs/label/2022/213793s001lbl.pdf (Accessed on June 17, 2022).
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