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Definition and clin...
Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome
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- Schoen, Michael (författare)
- Ulm Univ, Germany
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- Lapunzina, Pablo (författare)
- Hosp Univ La Paz, Spain; ISCIII, Spain; Hosp La Paz, Spain
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- Mattina, Teresa (författare)
- Hosp Univ La Paz, Spain; ISCIII, Spain; Hosp La Paz, Spain; Univ Catania, Italy
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- Gunnarsson, Cecilia, 1970- (författare)
- Linköpings universitet,Avdelningen för diagnostik och specialistmedicin,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Region Östergötland, Övr Regionledningskontoret
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- Hadzsiev, Kinga (författare)
- Univ Pecs, Hungary
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- Verpelli, Chiara (författare)
- CNR Neurosci Inst, Italy
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- Bourgeron, Thomas (författare)
- Univ Paris Cite, France
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- Jesse, Sarah (författare)
- Ulm Univ, Germany
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- Van Ravenswaaij-Arts, Conny M. A. (författare)
- Univ Groningen, Netherlands
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- Hennekam, Raoul C. (författare)
- Univ Groningen, Netherlands
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(creator_code:org_t)
- ELSEVIER, 2023
- 2023
- Engelska.
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Ingår i: European Journal of Medical Genetics. - : ELSEVIER. - 1769-7212 .- 1878-0849. ; 66:7
- Relaterad länk:
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https://liu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Phelan-McDermid syndrome (PMS) is an infrequently described syndrome that presents with a disturbed development, neurological and psychiatric characteristics, and sometimes other comorbidities. As part of the development of European medical guidelines we studied the definition, phenotype, genotype-phenotype characteristics, and natural history of the syndrome. The number of confirmed diagnoses of PMS in different European countries was also assessed and it could be concluded that PMS is underdiagnosed. The incidence of PMS in European countries is estimated to be at least 1 in 30,000. Next generation sequencing, including analysis of copy number variations, as first tier in diagnostics of individuals with intellectual disability will likely yield a larger number of individuals with PMS than presently known. A definition of PMS by its phenotype is at the present not possible, and therefore PMS-SHANK3 related is defined by the presence of SHANK3 haploinsufficiency, either by a deletion involving region 22q13.2-33 or a pathogenic/likely pathogenic variant in SHANK3. In summarizing the phenotype, we subdivided it into that of individuals with a 22q13 deletion and that of those with a pathogenic/likely pathogenic SHANK3 variant. The phenotype of individuals with PMS is variable, depending in part on the deletion size or whether only a variant of SHANK3 is present. The core phenotype in the domains development, neurology, and senses are similar in those with deletions and SHANK3 variants, but individuals with a SHANK3 variant more often are reported to have behavioural disorders and less often urogenital malformations and lymphedema. The behavioural disorders may, however, be a less outstanding feature in individuals with deletions accompanied by more severe intellectual disability. Data available on the natural history are limited. Results of clinical trials using IGF-1, intranasal insulin, and oxytocin are available, other trials are in progress. The present guidelines for PMS aim at offering tools to caregivers and families to provide optimal care to individuals with PMS.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Phelan-McDermid syndrome; PMS; 22q13 deletion syndrome; SHANK3; Genotype-phenotype correlation; Natural history; Clinical trials
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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