{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:27:24Z","timestamp":1792888044758,"version":"4.5.0"},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,1,7]],"date-time":"2021-01-07T00:00:00Z","timestamp":1609977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alstr\u00f6m syndrome (OMIM#203800) is an ultra\u2010rare autosomal recessive monogenic disease presenting pathogenic variants in <jats:italic>ALMS1<\/jats:italic> (chromosome 2p13). It is characterized by early onset of blindness, hearing loss and systemic comorbidities, with delayed development without cognitive impairment. We aimed to investigate the cognitive functions and describe new pathogenic variants in Alstr\u00f6m syndrome patients. Nineteen patients (13 adults, 6 children) underwent a thorough clinical, genetic, laboratory, instrumental, and neurocognitive assessment. Six new pathogenic variants in <jats:italic>ALMS1<\/jats:italic> including the first described in exon 6 were identified. Four patients displayed a \u201cmild phenotype\u201d characterized by slow disease onset or absence of complications, including childhood obesity and association with at least one pathogenic variant in exon 5 or 6. At neurocognitive testing, a significant proportion of patients had deficits in three neurocognitive domains: similarities, phonological memory, and apraxia. In particular, 53% of patients showed difficulties in the auditory working memory test. We found ideomotor and buccofacial apraxia in 74% of patients. \u201cMild phenotype\u201d patients performed better on auditory working memory and ideomotor apraxia test than \u201ctypical phenotype\u201d ones (91.9\u2009+\u200916.3% vs. 41.7\u2009+\u200934.5% of correct answers, <jats:italic>Z<\/jats:italic> = 64.5, <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.01 and 92.5\u2009+\u20099.6 vs. 61.7\u2009+\u200926.3, <jats:italic>Z<\/jats:italic> = 61, <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.05, respectively). Deficits in auditory working memory, ideomotor, and buccofacial apraxia were found in these patients and fewer neuropsychological deficits were found in the \u201cmild\u201d phenotype group. Furthermore, in the \u201cmild\u201d phenotype group, it was found that all pathogenic variants are localized before exon 8.<\/jats:p>","DOI":"10.1002\/ajmg.a.62029","type":"journal-article","created":{"date-parts":[[2021,1,10]],"date-time":"2021-01-10T13:15:26Z","timestamp":1610284526000},"page":"732-742","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Neurocognitive assessment and DNA sequencing expand the phenotype and genotype spectrum of Alstr\u00f6m syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1757-5399","authenticated-orcid":false,"given":"Francesca","family":"Dassie","sequence":"first","affiliation":[{"name":"DIMED, Universit\u00e0 di Padova  Padova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardina","family":"Lorusso","sequence":"additional","affiliation":[{"name":"DIMED, Universit\u00e0 di Padova  Padova 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