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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

Overview of attention for article published in Molecular Autism, April 2018
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (81st percentile)

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7 tweeters


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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
Published in
Molecular Autism, April 2018
DOI 10.1186/s13229-018-0205-9
Pubmed ID

Silvia De Rubeis, Paige M. Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, Maria del Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A. Ting Wang, J. Lloyd Holder, Catalina Betancur, Joseph D. Buxbaum, Alexander Kolevzon


Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking. We provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information. SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems. Haploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 128 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 128 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 20 16%
Student > Ph. D. Student 19 15%
Student > Bachelor 13 10%
Student > Doctoral Student 12 9%
Student > Master 12 9%
Other 18 14%
Unknown 34 27%
Readers by discipline Count As %
Medicine and Dentistry 21 16%
Neuroscience 18 14%
Biochemistry, Genetics and Molecular Biology 15 12%
Agricultural and Biological Sciences 14 11%
Psychology 14 11%
Other 9 7%
Unknown 37 29%

Attention Score in Context

This research output has an Altmetric Attention Score of 11. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 23 September 2018.
All research outputs
of 16,581,438 outputs
Outputs from Molecular Autism
of 546 outputs
Outputs of similar age
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Outputs of similar age from Molecular Autism
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Altmetric has tracked 16,581,438 research outputs across all sources so far. Compared to these this one has done well and is in the 88th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 546 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 29.2. This one has gotten more attention than average, scoring higher than 59% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 281,653 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 81% of its contemporaries.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them