Mini-Review Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities

Rocha, Catielly F; Paiva, Cláudia N.

doi:10.4238/2014.march.31.9

Cited by 38 publications

(42 citation statements)

References 26 publications

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“…Therefore, monosomy 1p36 should also be investigated in Prader-Willi-like patients. Not only 1p36 deletion symptoms overlap with those of PWS, but also the symptoms of various other syndromes and chromosomal abnormalities overlap with PWS (Rocha and Paiva, 2014). Here, we identified four cases of monosomy 1p36 showing the Prader-Willi-like phenotype.…”

Section: Discussionmentioning

confidence: 75%

Mini-Review Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes

et al. 2016

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ABSTRACT. The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms. The objective of this study was to review the cases of 1p36 deletion that was reported between 1999 and 2014, in order to identify a possible correlation between the size of the 1p36-deleted segment and the clinical phenotype of the disease. Scientific articles published in the (National Center for Biotechnology Information; NCBI http://www.ncbi.nlm. nih.gov/pubmed) and Scientific Electronic Library Online (www.scielo.com. br) databases were searched using key word combinations, such as "1p36 deletion", "monosomy 1p36 deletion", and "1p36 deletion syndrome". Articles in English or Spanish reporting the correlation between deletion sizes and the respective clinical phenotypes were retrieved, while letters, reviews, guidelines, and studies with mouse models were excluded. Among the 746 retrieved articles, only 17 (12 case reports and 5 series of cases), comprising 29 patients (9 males and 20 females, aged 0 months (neonate) to 22 years) bearing the 1p36 deletions and whose clinical phenotypes were described, met the inclusion criteria. The genotype-phenotype correlation in monosomy 1p36 is a challenge because of the variability in the size of the deleted segment, as well as in the clinical manifestations of similar size deletions. Therefore, the severity of the clinical features was not always associated with the deletion size, possibly because of the other influences, such as stochastic factors, epigenetic events, or reduced penetration of the deleted genes.

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Section: Discussionmentioning

confidence: 75%

Mini-Review Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes

et al. 2016

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“…According to several studies, most individuals with PWS (about two-thirds) have a de novo paternally inherited deletion of the chromosome 15q11-q13 region; about 25% of cases have maternal disomy 15 (chromosome 15 is inherited from the mother) [111]; less than 3% of patients have defects in the genomic imprinting center due to microdeletions or epimutations [104,106,112,113], while rearrangements of the 15q11-q13 region or chromosomal translocations are rare [104,114].…”

Section: Imprinted Genetic Syndromesmentioning

confidence: 99%

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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“…A betegség hátterében a 15. kromoszóma hosszú karján található apai eredetű 15q11q13 régióban található gének expressziójának hiánya áll. Ezen a szakaszon több, össze-tett funkciójú gén található (például IMRKN3, MAGEL2, NDN, SNURF-SNRPN gén, valamint kü-lönböző C/D box snoRNS-ek) [2][3][4]. A PWS minimális kritikus régiója a SNORD116 snoRNS-génklaszter, amelynek funkciója a hiperfágiás fenotípussal helyezhető összefüggésbe [5,6].…”

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“…Ez a módszer elsősorban szűrésre alkalmas: segítséget nyújt a klinikusnak, hogy mely betegnél indokolt a genetikai vizsgálat. Azokban az esetekben, amikor a fenotípus PWS-re utal, genetikai eltérés azonban nem mutatható ki, PraderWilli-like-szindrómáról van szó [2,3]. A PWS kezelé-sében a megfelelően alkalmazott növekedésihormon-terápia nyújthat segítséget, mivel jótékony hatást gyakorolhat a testösszetételre, a növekedésre, a metabolikus statusra és a pszichokognitív teljesítményre is [15].…”

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Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására

et al. 2018

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Bevezetés: A nemzetközi szakirodalmi adatok alapján az SNRPN génlocus promoter régiójának DNS-metilációs vizsgálata jelenleg a legérzékenyebb és leghatékonyabb kezdeti lépés a Prader-Willi-szindróma-gyanús betegek genetikai vizsgálatakor. Célkitűzés: Célunk egy egyszerű, megbízható, könnyen hozzáférhető, elsődlegesen diagnosztikus, DNS-metiláción alapuló eljárás kidolgozása volt Prader-Willi-szindróma igazolására. Módszer: Vizsgálatunk során az általunk módosított, költséghatékony, metilációszenzitív, nagy felbontású olvadás-pont-elemzéses technikát hasonlítottuk össze a leginkább elterjedt, költséges metilációspecifikus multiplex ligatiofüggő próbaamplifikációs technikával. Klinikailag a Prader-Willi-szindróma több tünetét mutató 17 gyermek DNSmetilációs vizsgálatát végeztük el saját tervezésű primerekkel: biszulfitszekvenáló polimeráz-láncreakció, metilációszenzitív nagy felbontású olvadáspont-elemzés és kontrollként metilációspecifikus multiplex ligatiofüggő próbaamplifikáció történt. Eredmények: A metilációszenzitív nagy felbontású olvadáspont-elemzés és a metilációspecifikus multiplex ligatiofüggő próbaamplifikáció eredményei minden esetben megegyeztek. A 17 esetből 6 esetben igazolódott a Prader-Williszindróma. Következtetés: Az általunk használt DNS-metiláción alapuló módszer, amelyben együttesen alkalmaztunk egyedi tervezésű primereket és módosított biszulfitszekvenáló polimeráz-láncreakciót, egyszerű, gyors, megbízható és haté-kony vizsgálatnak bizonyult a Prader-Willi-szindróma elsődleges igazolására. Orv Hetil. 2018; 159(2): 64-69. Kulcsszavak: Prader-Willi-szindróma, molekuláris genetika, DNS-metiláció Rapid first-tier genetic diagnosis in patients with Prader-Willi syndromeIntroduction: According to the international literature, DNA methylation analysis of the promoter region of SNRPN locus is the most efficient way to start genetic investigation in patients with suspected Prader-Willi syndrome. Aim: Our aim was to develop a simple, reliable first-tier diagnosis to confirm Prader-Willi syndrome, therefore to compare our self-designed simple, cost-efficient high-resolution melting analysis and the most commonly used methylation-specific multiplex ligation-dependent probe amplification to confirm Prader-Willi syndrome. Method: We studied 17 clinically suspected Prader-Willi syndrome children and their DNA samples. With self-designed primers, bisulfite-sensitive polymerase chain reaction, high-resolution melting analysis and, as a control, methylation-specific multiplex ligation-dependent probe amplification were performed. Results: Prader-Willi syndrome was genetically confirmed in 6 out of 17 clinically suspected Prader-Willi syndrome patients. The results of high-resolution melting analysis and methylation-specific multiplex ligation-dependent probe amplification were equivalent in each case. Conclusion: Using our self-designed primers and altered bisulfite-specific PCR conditions, high-resolution melting analysis appears to be a simple, fast, reliable and effective method for primarily proving or e...

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Mini-Review Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities

Cited by 38 publications

References 26 publications

Mini-Review Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes

Mini-Review Monosomy 1p36 syndrome: reviewing the correlation between deletion sizes and phenotypes

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

Elsődleges genetikai vizsgálat Prader–Willi-szindróma igazolására

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