{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T15:35:26Z","timestamp":1793547326097,"version":"4.5.0"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T00:00:00Z","timestamp":1708560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2024,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loss\u2010of\u2010function <jats:italic>CHD2<\/jats:italic> (chromodomain helicase DNA\u2010binding protein 2) mutations are associated with a spectrum of neurodevelopmental disorders often including early\u2010onset generalized seizures, photosensitivity, and epileptic encephalopathies. Patients show psychomotor delay\/intellectual disability (ID), autistic features, and behavior disorders, such as aggression and impulsivity. Most reported cases are sporadic with description of germline mosaicism only in two families. We detect the first case of parental gonosomal <jats:italic>CHD2<\/jats:italic> mosaicism disclosed by two brothers showing mild ID, born to healthy parents. The eldest brother has a history of drug\u2010controlled generalized tonic\u2013clonic seizures and displays sleep disorder and aggressive behavior suggestive of Smith\u2013Magenis syndrome (SMS). Analysis of brothers\u2019 DNAs by next\u2010generation sequencing (NGS) custom gene panel for pediatric epilepsy and\/or ID disclosed in both the same pathogenic <jats:italic>CHD2<\/jats:italic> variant. Additional NGS experiment on genomic DNA from parents\u2019 peripheral blood and from buccal swab raised the suspicion of low\u2010grade gonosomal mosaicism in the unaffected mother subsequently confirmed by digital polymerase chain reaction (dPCR). This report underlines as worthwhile <jats:italic>CHD2<\/jats:italic> screening in individuals presenting ID\/developmental delay, with\/without epilepsy, and behavior and sleep disorders suggestive of SMS. Detecting a <jats:italic>CHD2<\/jats:italic> variant should prime testing probands' parents by NGS coupled to dPCR on different tissues to exclude\/confirm gonosomal mosaicism and define the recurrence risk.<\/jats:p>","DOI":"10.1002\/ajmg.b.32976","type":"journal-article","created":{"date-parts":[[2024,2,22]],"date-time":"2024-02-22T14:57:40Z","timestamp":1708613860000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Low\u2010grade parental gonosomal mosaicism in <scp><i>CHD2<\/i><\/scp> siblings with <scp>Smith\u2013Magenis<\/scp>\u2010like syndrome"],"prefix":"10.1002","volume":"195","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6073-5445","authenticated-orcid":false,"given":"Francesca","family":"Cogliati","sequence":"first","affiliation":[{"name":"Research Laboratory of Medical Cytogenetics and Molecular Genetics IRCCS Istituto Auxologico Italiano  Milan 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