Deletion of the last exon of SHANK3 gene produces the full Phelan–McDermid phenotype: A case report

Macedoni-Lukšič, Marta; Krgovic, Danijela; Zagradišnik, Boris; Kokalj-Vokac, Nadja

doi:10.1016/j.gene.2013.03.141

Cited by 14 publications

(13 citation statements)

References 20 publications

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“…Three case reports suggest that regression occurs, and affects motor and language skills (Cochoy et al, 2015; Figura et al, 2014; Macedoni-Lukšic, Krgovic, Zagradišnik, & Kokalj-Vokac, 2013). Three additional investigations have reported on loss of developmental skills.…”

Section: Introductionmentioning

confidence: 99%

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)

Reierson

Bernstein

Froehlich-Santino

et al. 2017

Journal of Psychiatric Research

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Purpose To describe the frequency and characteristics of developmental regression in a sample of 50 patients with Phelan McDermid Syndrome (PMS) and investigate the possibility of association between regression, epilepsy, and electroencephalogram (EEG) abnormalities and deletion size. Methods The Autism Diagnostic Interview-Revised (ADI-R) was used to evaluate regression in patients with a confirmed diagnosis of PMS. Information on seizure history and EEGs was obtained from medical record review. Deletion size was determined by array CGH. Results A history of regression at any age was present in 43% of all patients. Among those exhibiting regression, 67% had onset after the age of 30 months, affecting primarily motor and self-help skills. In 63% of all patients there was a history of seizures and a history of abnormal EEG was also present in 71%. No significant associations were found between regression and seizures or EEG abnormalities. Deletion size was significantly associated with EEG abnormalities, but not with regression or seizures. Conclusion This study found a high rate of regression in PMS. In contrast to regression in autism, that often occurs earlier in development and affects language and social skills, we found regression in PMS most frequently has an onset in mid-childhood, affecting motor and self-help skills. We also found high rates of seizures and abnormal EEGs in patients with PMS. However, a history of abnormal EEG and seizures was not associated with an increased risk of regression. Larger deletion sizes were found to be significantly associated with a history of abnormal EEG.

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Section: Introductionmentioning

confidence: 99%

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)

Reierson

Bernstein

Froehlich-Santino

et al. 2017

Journal of Psychiatric Research

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“…Deletions involving the chromosome region 22q13.33, also known as Phelan–McDermid syndrome (PMS, OMIM 606232), are the result of either de novo terminal or interstitial deletions, or less commonly by unbalanced chromosomal rearrangements involving 22q13.33 [Wilson et al, ; Dhar et al, ; Misceo et al, ; Phelan and McDermid, ; Macedoni‐Lukšič et al, ]. Clinical features of PMS are highly variable and can include global developmental delay, intellectual impairment, hypotonia, severely delayed or absent speech, autism, or autistic‐like behavior, and seizures [Phelan and McDermid, ].…”

Section: To the Editormentioning

confidence: 99%

“…The PMS proposed critical region (22q13.33) includes SHANK3 , ACR , and RABL2 , although many other genes in larger deletions may have a phenotypic role. Recently, several studies have narrowed the PMS critical region to the SHANK3 gene [Dhar et al, ; Macedoni‐Lukšič et al, ], which also appears to be the most likely candidate for neurological impairments [Luciani et al, ; Wilson et al, ; Phelan and McDermid, ].…”

Section: To the Editormentioning

confidence: 99%

“…Deletions spanning the 22q13.33 region that include the SHANK3 , ACR , and RABL2 genes result in PMS [Luciani et al, ; Wilson et al, ]. In addition, intragenic SHANK3 deletions have also been reported to produce the full clinical spectrum of PMS [Misceo et al, ; Macedoni‐Lukšič et al, ]. The prompt diagnosis of PMS is also of importance, as screening protocols for hypothyroidism, hearing impairment, arachnoid cysts, and renal anomalies are recommended [Phelan and McDermid, ].…”

Section: To the Editormentioning

confidence: 99%

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Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome

Peterson

Bick

Geddes

et al. 2016

American J of Med Genetics Pt A

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“…PMS is caused by deletion of the terminal end of the long arm of chromosome 22 or by mutation and loss of function of the SHANK3 gene (Macedoni‐Lukšič, Krgović, Zagradišnik, & Kokalj‐Vokač, 2013), which is also implicated in ASD (Gauthier et al, 2008; Uchino & Waga, 2013). Diagnosis is only possible with genetic testing and is often delayed.…”

Section: Introductionmentioning

confidence: 99%

Phelan‐McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports

Kothari

Wack

Hassen‐Khodja

et al. 2017

American J of Med Genetics Pt B

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The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan‐McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan‐McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype–genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes—two heterogeneous, underutilized sources of knowledge about patient phenotypes—with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn.hms.harvard.edu. PMS_DN is a Patient Centric Outcomes Research Initiative (PCORI) where patients and their families are involved in all aspects of the management of patient data in driving research into PMS. To foster collaborative research, PMS_DN also makes patient aggregates from this knowledge available to authorized investigators using distributed research networks such as the PCORnet PopMedNet. PMS_DN is hosted on a scalable cloud based environment and complies with all patient data privacy regulations. As of October 31, 2016, PMS_DN integrates high‐quality knowledge extracted from the clinical notes of 112 patients and curated genetic reports of 176 patients with preprocessed PRO data from 415 patients.

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Deletion of the last exon of SHANK3 gene produces the full Phelan–McDermid phenotype: A case report

Cited by 14 publications

References 20 publications

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)

Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome

Phelan‐McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports

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