DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients

Geets, Ellen; Aerts, Evi; Verrijken, An; Hoorenbeeck, Kim Van; Verhulst, Stijn; Gaal, Luc Van; Hul, Wim Van

doi:10.1016/j.orcp.2017.10.001

Cited by 2 publications

(2 citation statements)

References 41 publications

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“…Articles were excluded if the primary focus was on (typical) PWS, such as intervention trials or studies about the behavioral phenotype. A few studies carried out testing for a specific genetic defect in a cohort of PWL patients (14)(15)(16), but identified no variants in their patients. These papers did not provide any individual case data and were also excluded for review.…”

Section: Methodsmentioning

confidence: 99%

The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature

2021

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Prader-Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients with characteristics similar to PWS, but without a typical genetic aberration of the 15q11-q13 region, have been described. These patients are often labelled as Prader-Willi-like (PWL). PWL is an as-yet poorly defined syndrome, potentially affecting a significant number of children and adults. In the current clinical practice, patients labelled as PWL are mostly left without treatment options. Considering the similarities with PWS, children with PWL might benefit from the same care and treatment as children with PWS. This review gives more insight into the pheno- and genotype of PWL and includes 86 papers, containing 368 cases of patients with a PWL phenotype. We describe mutations and aberrations for consideration when suspicion of PWS remains after negative testing. The most common genetic diagnoses were Temple syndrome (formerly known as maternal uniparental disomy 14), Schaaf-Yang syndrome (truncating mutation in the MAGEL2 gene), 1p36 deletion, 2p deletion, 6q deletion, 6q duplication, 15q deletion,15q duplication, 19p deletion, fragile X syndrome and Xq duplication. We found that the most prevalent symptoms in the entire group were developmental delay/intellectual disability (76%), speech problems (64%), overweight/obesity (57%), hypotonia (56%) and psycho-behavioral problems (53%).In addition, we propose a diagnostic approach to patients with a PWL phenotype for (pediatric) endocrinologists. PWL comprises a complex and diverse group of patients, which calls for multidisciplinary care with an individualized approach.

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Section: Methodsmentioning

confidence: 99%

The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature

2021

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“…Patients with negative testing for PWS should be investigated for other chromosomal deletions and duplications associated with PWS-like characteristics [ 27 , 73 ], as well as possible single-gene defects [ 74 – 77 ].…”

Section: Diagnosismentioning

confidence: 99%

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China

Dai

Fei-Hong²,

Zhang³

et al. 2022

Orphanet J Rare Dis

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Prader-Willi syndrome (PWS) is a complex and multisystem neurobehavioral disease, which is caused by the lack of expression of paternally inherited imprinted genes on chromosome15q11.2-q13.1. The clinical manifestations of PWS vary with age. It is characterized by severe hypotonia with poor suck and feeding difficulties in the early infancy, followed by overeating in late infancy or early childhood and progressive development of morbid obesity unless the diet is externally controlled. Compared to Western PWS patients, Chinese patients have a higher ratio of deletion type. Although some rare disease networks, including PWS Cooperation Group of Rare Diseases Branch of Chinese Pediatric Society, Zhejiang Expert Group for PWS, were established recently, misdiagnosis, missed diagnosis and inappropriate intervention were usually noted in China. Therefore, there is an urgent need for an integrated multidisciplinary approach to facilitate early diagnosis and optimize management to improve quality of life, prevent complications, and prolong life expectancy. Our purpose is to evaluate the current literature and evidences on diagnosis and management of PWS in order to provide evidence-based guidelines for this disease, specially from China.

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DNA sequencing and copy number variation analysis of MCHR2 in a cohort of Prader Willi like (PWL) patients

Cited by 2 publications

References 41 publications

The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature

The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature

Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China

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