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From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes

C. Camprubí-Sánchez, E. Gabau-Vila, J. Artigas-Pallarés, M.D. Coll-Sandiumenge, M. Guitart-Feliubadaló [REV NEUROL 2006;42 (Supl. 1):S61-S67] PMID: 16506135 DOI: https://doi.org/10.33588/rn.42S01.2005699

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Volumen 42 | Number S01 | Nº of views of the article 11.643 | Nº of PDF downloads 2.390 | Article publication date 07/01/2006

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ABSTRACT

INTRODUCTION AND DEVELOPMENT. Angelman syndrome (AS) is characterised by severe mental retardation (MR), the absence of language, ataxia and/or tremors in the extremities and a characteristic behavioural phenotype with a happy behaviour and hyperactivity. Patients often show signs of microcephaly and convulsions. Prader-Willi syndrome (PWS) is characterised by acute hypotonia and feeding problems in the neonatal period, and triggers an uncontrollable appetite in the infant that leads to obesity. Most patients have some degree of MR, behavioural disorders and hypogonadism. Both pathologies are caused by a number of genetic mechanisms that affect the 15q11-q13 region regulated by genomic imprinting, which means that only one of the two copies of the genes in this region will be functional, depending on which parent they come from. The physical or functional absence of genes that are only expressed by the mother’s chromosome 15 causes PWS and gentic anomalies which affects the UBE3A gen mother’s copy causes AS.

CONCLUSIONS It is important to confirm the clinical diagnosis and to establish the genetic mechanism responsible for the two syndromes, both for their consequences as regards the prognosis and for genetic counselling; it is therefore important to draw up a diagnostic algorithm. KeywordsAngelman syndrome Deletion Genetic counselling Genomic imprinting Prader-Willi syndrome Uniparental disomy

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From the clinical to the genetic diagnosis of Prader-Willi and Angelman syndromes

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