The Genetics of Mental Retardation

Puiu, Maria; Dumitriu, Simona; Chiriţă-Emandi, Adela; Grădinaru, Raluca Claudia; Arghirescu, Smaranda

doi:10.5772/52964

Cited by 2 publications

(8 citation statements)

References 46 publications

(53 reference statements)

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“…Also, POMC deficiency causes hyperphagia and childhood obesity [3,40]. The clinical features are comparable to those reported in patients with mutations in the receptor for POMC-derived ligands, MC4R (see below in the next chapter) [12].…”

Section: Pomc Deficiency (Omim #609734)supporting

confidence: 55%

“…Both heterozygous and homozygous mutations in MC4R have been implicated in obesity, but extreme obesity is incompletely penetrant in heterozygous patients [3]. Also, in these patients, genetic and environmental factors influence the severity of obesity associated with mutations of MC4-R.…”

Section: Melanocortin-4 Receptor Deficiency (Mc4r)mentioning

confidence: 99%

“…These patients also have an accelerated growth that seems to be a consequence of hyperinsulinemia which such patients present from the earliest periods of life. It is apparently not related to a dysfunction of the GH axis [3,49]. Despite this early hyperinsulinemia, obese adult subjects who are heterozygous for mutations in the MC4R gene are not at increased risk of developing glucose intolerance and NIDDM compared to controls of similar age and adiposity [12,45].…”

Section: Melanocortin-4 Receptor Deficiency (Mc4r)mentioning

confidence: 99%

“…The similar phenotype between patients with SMI1 and MC4-R deficiency suggests that some effects of SIM1 are mediated by altered melanocortin signaling. On the other hand, some children with SIM1 mutations have neuro-behavioral disorders including autism spectrum and "PraderWilli-like" phenotype (Figure 2) [3,12].…”

Section: Sim1 Deficiencymentioning

confidence: 99%

“…In order to create the best management programs and to determine novel therapeutic targets, it has become essential to understand the factors causing today's rising epidemic of childhood obesity [3].…”

Section: Introductionmentioning

confidence: 99%

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New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

Stagi¹,

Bianconi²,

Sammarco³

et al. 2017

Adiposity - Omics and Molecular Understanding

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Historically, some genetic syndromes and monogenic forms of obesity have been identified by clinical features and by sequencing candidate genes in patients with severe obesity. The phenotypic expression of genetic factors involved in obesity is variable, thereby allowing to distinguish several clinical pictures of obesity. Monogenic obesity is described as rare and severe early-onset obesity with abnormal feeding behavior and endocrine disorders. Many of the findings emerged from studying families who displayed a classical Mendelian pattern of inheritance. On the contrary, patients with syndromic obesity show a various degree of intellectual disability, different dysmorphic features, and organ-specific abnormalities. But to date, not all involved genes have been identified so far. New diagnostic tools, such as genome-wide studies, array CGH, and whole-exome sequencing, have highlighted more complex models of inheritance, and even more candidate genes were identified. This increase of knowledge may provide insights into the mechanisms involved in the regulation of body weight and finally lead to specific treatments. In these patients, hyperphagia is often a primary phenotypic component. Substantial gaps in understanding the molecular basis of inherited hyperphagia syndromes are present today with a lack of mechanistic targets that can serve as a basis for pharmacologic and behavioral treatments. We have evaluated retrospectively the literature data on weight, body mass index (BMI), clinical features, treatments, and treatment response in pediatric patients with forms of genetic obesity. However, this chapter provides an updated picture of emerging knowledge outlined by the more comprehensive genetic approaches, trying to outline more candidate genes for these forms of genetic obesity. Relevant papers will be identified through systematic searches of the PubMed, EMBASE and Cochrane databases. All published studies in the English language concerning these disorders will be evaluated. Keywords in the

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Section: Pomc Deficiency (Omim #609734)supporting

confidence: 55%

Section: Melanocortin-4 Receptor Deficiency (Mc4r)mentioning

confidence: 99%

Section: Melanocortin-4 Receptor Deficiency (Mc4r)mentioning

confidence: 99%

Section: Sim1 Deficiencymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

Stagi¹,

Bianconi²,

Sammarco³

et al. 2017

Adiposity - Omics and Molecular Understanding

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SETBP1 Geninde Mental Retardasyon Tip 29 Sendromuyla Ilişkili Yeni Mutasyon Tanımlanması: Olgu Sunumu

Alagöz¹,

Gunger²,

Yüksel³

2019

Sakarya Medical Journal

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Mental retardasyon genetik ve çevresel faktörlerin etkileri sonucu ortaya çıkan konjenital anomalilerdir. Genetik bozuklukların mental retardasyonun gelişmesindeki etkinliği göz önüne alındığında genetik tanının hastalığın teşhisi ve tedavisideki rolü büyük önem taşımaktadır. Mental retardasyonda erken dönemde teşhis koyulması ve müdahale edilmesi durumunda hastalığın seyrinin daha olumlu yönde gitmesi sağlanabilir ve tedavisinde büyük farklar yaratılabilir. Bu olgu sunumunda yeni nesil dizileme yöntemi (YND) kullanılarak hastanın tüm genomundaki protein kodlayan genler dizilenmiştir ve klinik bulgularla ilişkili olarak SET bağlayıcı protein 1'in (SETBP1) geninde daha önce tanımlanmamış heterozigot, klinik etkisi henüz bilinmeyen bir mutasyon c.3515G>T saptanmıştır. Hastada bulunan bu yeni mutasyon Sanger dizileme ile doğrulanmıştır.

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The Genetics of Mental Retardation

Cited by 2 publications

References 46 publications

New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

New Thoughts on Pediatric Genetic Obesity: Pathogenesis, Clinical Characteristics and Treatment Approach

SETBP1 Geninde Mental Retardasyon Tip 29 Sendromuyla Ilişkili Yeni Mutasyon Tanımlanması: Olgu Sunumu

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