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Most cases are caused by 22q13 deletions encompassing many genes including <jats:italic>SHANK3<\/jats:italic>. Phenotype comparisons between patients with <jats:italic>SHANK3<\/jats:italic> mutations (or deletions only disrupt <jats:italic>SHANK3<\/jats:italic>) and 22q13 deletions encompassing more than <jats:italic>SHANK3<\/jats:italic> gene\u00a0are lacking.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>A total of 29 Mainland China patients were clinically and genetically evaluated. Data were obtained from medical record review and a standardized medical history questionnaire, and dysmorphology evaluation was conducted via photographic evaluation. We analyzed 22q13 deletions and <jats:italic>SHANK3<\/jats:italic> small mutations and performed genotype\u2013phenotype analysis to determine whether neurological features and other important clinical features are responsible for haploinsufficiency of <jats:italic>SHANK3<\/jats:italic>.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Nineteen patients with 22q13.3 deletions ranging in size from 34\u00a0kb to 8.7\u00a0Mb, one patient with terminal deletions and duplications, and nine patients with <jats:italic>SHANK3<\/jats:italic> mutations were included. All mutations would cause loss-of function effect and six novel heterozygous variants, c.3838_3839insGG, c.3088delC, c.3526G\u2009&gt;\u2009T, c.3372dupC, c.3120delC and c.3942delC, were firstly reported. Besides, we demonstrated speech delay (100%), DD\/ID (88%), ASD (80%), hypotonia (83%) and hyperactivity (83%) were prominent clinical features. Finally, 100% of cases with monogenic <jats:italic>SHANK3<\/jats:italic> deletion had hypotonia and there was no significant difference between loss of <jats:italic>SHANK3<\/jats:italic> alone and deletions encompassing more\u00a0than <jats:italic>SHANK3<\/jats:italic> gene in the prevalence of hypotonia, DD\/ID, ASD, increased pain tolerance, gait abnormalities, impulsiveness, repetitive behaviors, regression and nonstop crying which were high in loss of <jats:italic>SHANK3<\/jats:italic> alone group.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This is the first work describing a cohort of Mainland China patients broaden the clinical and molecular spectrum of PMS. Our findings support the effect of 22q13 deletions and <jats:italic>SHANK3<\/jats:italic> point mutations on language impairment and several clinical manifestations, such as DD\/ID. We also demonstrated <jats:italic>SHANK3<\/jats:italic> haploinsufficiency was a major contributor to the neurological phenotypes of PMS and also responsible for other important phenotypes such as hypotonia, increased pain tolerance, impulsiveness, repetitive behaviors, regression and nonstop crying.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-020-01592-5","type":"journal-article","created":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T13:02:52Z","timestamp":1606741372000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["A 29 Mainland Chinese cohort of patients with Phelan\u2013McDermid syndrome: genotype\u2013phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes"],"prefix":"10.1186","volume":"15","author":[{"given":"Na","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Lv","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tingting","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiujuan","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanjie","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaomei","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongkun","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lili","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4472-0910","authenticated-orcid":false,"given":"Yongguo","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,11,30]]},"reference":[{"issue":"1","key":"1592_CR1","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1038\/s41398-018-0212-9","volume":"8","author":"L Ponson","year":"2018","unstructured":"Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, et al. 22q13 deletion syndrome: communication disorder or autism? 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