Familial transmission of 5p13.2 duplication due to maternal der(X)ins(X;5)

Walters-Sen, Lauren; Windemuth, Kathy; Angione, Katie; Nandhlal, Jenisha; Milunsky, Jeff M.

doi:10.1016/j.ejmg.2015.03.004

Cited by 3 publications

(1 citation statement)

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“…The lymphedema may be secondary to obesity, but heart defects should be ruled out. [50] Deletions in the 6q16.1-q16.2 region that are approximately 4.1 Mb in size have been reported in patients with features of PWS including hypotonia, developmental delay, autism spectrum disorders, small hands and feet, and obesity. Additional features may include congenital heart defects.…”

Section: Chromosomal Anomalies In Syndromic Obesitymentioning

confidence: 99%

Syndromic and Nonsyndromic Obesity: Underlying Genetic Causes in Humans

Duis

Butler

2022

Advanced Biology

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cardiovascular disease, hypertension, cancers, orthopedic problems, and reduced fertility.Genetic factors can be classified as monogenic or caused by variants of single genes, polygenic involving several interacting genes, or syndromes accompanying obesity and recognized phenotypes. Neurological dysfunction or abnormal regulation of energy utilization, expenditure or storage via hormone production, transport or receptors impact overall energy homeostasis. [1,2] Furthermore, heritability estimates indicate that genetic factors may contribute to up to 70% of obesity, primarily affecting genetic pathways common in lipid metabolism, fat deposition or lipid transport, eating behavior, food selection and hormones, physical activity or energy expenditure based on studies from monozygotic twins reared apart and living in a different environment. [3] Heritability estimates do increase from infancy through adolescence. Over 10 000 references in the medical literature were identified when searching for obesity genes and syndromes with approximately 80 recorded obesityrelated syndromes. [1][2][3][4][5] The prevalence estimates for monogenic obesity syndromes range from about one in 550 to aprroximately one in 1 million. [5] Clinical findings identified in genetic obesity syndromes often overlap, as found in at least 52 related obesity syndromes displaying some form of intellectual disability while seven syndromes present with macrocephaly and seven syndromes with microcephaly. [5] Obesity syndromes may exhibit complex patterns of inheritance including autosomal dominant (e.g., Alstrom), autosomal recessive (e.g., Carpenter), X-linked (e.g., Borjeson-Forssman-Lehmann), errors in genomic imprinting (e.g., Prader-Willi), triallelic inheritance (e.g., Bardet-Biedel) or chromosome anomalies (e.g., 16p11.2 deletion). Hormonal Pathways and Genetic RegulationHormones and their role in appetite control and weight regulation are now an active area of research with clinical trials often focusing on hyperphagia and overeating, common in rare obesity-related disorders such as Prader-Willi syndrome. [6] Eating hormones are becoming increasingly recognized as playing a role in the central nervous system (CNS), particularly regions Growing evidence supports syndromic and nonsyndromic causes of obesity, including genome-wide association studies, candidate gene analysis, advanced genetic technology using next-generation sequencing (NGS), and identification of copy number variants. Identification of susceptibility genes impacts mechanistic understanding and informs precision medicine. The cause of obesity is heterogeneous with complex biological processes playing a role by controlling peptides involved in regulating appetite and food intake, cellular energy, and metabolism. Evidence for heritability shows genetic components contributing to 40%-70% of obesity. Monogenic causes and obesity-related syndromes are discussed and illustrated as well as biological pathways, gene interactions, and factors contributing to the obesity phenotype. Over 550...

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Section: Chromosomal Anomalies In Syndromic Obesitymentioning

confidence: 99%