The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Phelan, K.; McDermid, H.E.

doi:10.1159/000334260

Cited by 460Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

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Phelan, K., McDermid, H.E.·2011·Molecular Syndromology

DOI 10.1159/000334260PMC PMC3366702

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Abstract

The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or severely delayed speech, and neonatal hypotonia. In addition, more than 50% of patients show autism or autistic-like behavior, and therefore it can be classified as a syndromic form of autism spectrum disorders (ASD). The differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. Over 600 cases of 22q13.3 deletion syndrome have been documented. Most are terminal deletions of ∼100 kb to >9 Mb, resulting from simple deletions, ring chromosomes, and unbalanced translocations. Almost all of these deletions include the gene SHANK3 which encodes a scaffold protein in the postsynaptic densities of excitatory synapses, connecting membrane-bound receptors to the actin cytoskeleton. Two mouse knockout models and cell culture experiments show that SHANK3 is involved in the structure and function of synapses and support the hypothesis that the majority of 22q13.3 deletion syndrome neurological defects are due to haploinsufficiency of SHANK3, although other genes in the region may also play a role in the syndrome. The molecular connection to ASD suggests that potential future treatments may involve modulation of metabotropic glutamate receptors.

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In patients with de novo or truncating SHANK3 mutations, the early regression and adolescent worsening correlate with frequent emergence of epilepsy.
“which correlates with a frequent emergence of epilepsy 95”
From Progress toward treatments for synaptic defects in autism (2013) · cites this paper as [95]
Most patients with de novo or truncating mutations in SHANK3 show an early regression before 36 months and a worsening during adolescence.
“most patients with de novo or truncating mutations in SHANK3 show an early regression before 36 months and a worsening during adolescence”
From Progress toward treatments for synaptic defects in autism (2013) · cites this paper as [95]
Individuals carrying SHANK3 deletions had manifestations of the Phelan-McDermid syndrome.
“The individuals carrying SHANK3 deletions had also manifestations of the Phelan-McDermid syndrome [15].”
From Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments (2014) · cites this paper as [15]

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Untitled work
Jonnal (2000) · doi:10.1002/1096-8628(20001204)96:6

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Research works printed but not linked: 2

Phelan K: 22q13.3 deletion syndrome; in Pagon RA, Bird TD, Dolan CR, Stephens K (eds): GeneTests: GeneReviews [Internet], (Uni- versity of Washington, Seattle, WA 2007). Available at http://www.ncbi.nlm.nih.gov/ books/NBK1198/.
Phelan MC, Stapleton GA, Rogers RC: The Man- agement of Genetic Syndromes (Wiley-Liss, Inc., Hoboken 2010).

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Authors: Phelan, K., & McDermid, H. E.
Affiliations: Tulane University (US)
University of Alberta (CA)
ORCID: Phelan, K.
McDermid, H.E.
Venue: Molecular Syndromology
Publisher: S. Karger AG
Published: 2011
Volume: 2
Issue: 3-5
Pages: 186-201
ISSN: 1661-8769 (ISSN-L)
1661-8777
DOI: 10.1159/000334260
PMC: PMC3366702
OpenAlex: W2015053297
Cited by: 460
References: 84
Citations by year: 2026: 23 · 2025: 18 · 2024: 32 · 2023: 52 · 2022: 47 · 2021: 36 · 2020: 41 · 2019: 34 · 2018: 37 · 2017: 31 · 2016: 32 · 2015: 23 · 2014: 22 · 2013: 27 · 2012: 4
FWCI: 10.78
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.karger.com/Services/SiteLicenses (vor)
www.karger.com/Services/SiteLicenses (tdm)
Locations: Molecular Syndromology (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords: Phelan-McDermid syndrome, SHANK3, autism spectrum disorder, intellectual disability, developmental delay, speech delay, hypotonia, haploinsufficiency, synaptic dysfunction, metabotropic glutamate receptors, differential diagnosis, Angelman syndrome, 22q11.2 deletion syndrome, fragile X syndrome, FG syndrome, ring chromosomes, unbalanced translocation

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The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

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