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These copy number variants usually encompass <jats:italic>FOXP2<\/jats:italic>, haploinsufficiency of which represents a widely acknowledged cause for specific speech and language disorders. By chromosomal microarray analysis we identified a 4.7 Mb microdeletion at 7q31.2q31.31 downstream of <jats:italic>FOXP2<\/jats:italic> in three family members presenting with variable speech, language and neurodevelopmental phenotypes. The index individual showed delayed speech development with impaired speech production, reduced language comprehension, and additionally learning difficulties, microcephaly, and attention deficit. His younger sister had delayed speech development with impaired speech production and partially reduced language comprehension. Their mother had attended a school for children with speech and language deficiencies and presented with impaired articulation. The deletion had occurred <jats:italic>de novo<\/jats:italic> in the mother, includes 15 protein\u2010coding genes and is located in close proximity to the 3\u2032 end of <jats:italic>FOXP2<\/jats:italic>. Though a novel locus at 7q31.2q31.31 associated with mild neurodevelopmental and more prominent speech and language impairment is possible, the close phenotypic overlap with <jats:italic>FOXP2<\/jats:italic>\u2010associated speech and language disorder rather suggests a positional effect on <jats:italic>FOXP2<\/jats:italic> expression and function.<\/jats:p>","DOI":"10.1002\/ajmg.a.61838","type":"journal-article","created":{"date-parts":[[2020,9,4]],"date-time":"2020-09-04T07:50:57Z","timestamp":1599205857000},"page":"2737-2741","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["7q31.2q31.31 deletion downstream of <scp><i>FOXP2<\/i><\/scp> segregating in a family with speech and language disorder"],"prefix":"10.1002","volume":"182","author":[{"given":"Melissa","family":"Rieger","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU)  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mandy","family":"Krumbiegel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU)  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam S.","family":"Reuter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU)  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Sch\u00fctzenberger","sequence":"additional","affiliation":[{"name":"Division of Phoniatrics and Pediatric Audiology, Department of Otorhinolaryngology, Head and Neck Surgery Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU)  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU)  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8002-2020","authenticated-orcid":false,"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Universit\u00e4tsklinikum Erlangen, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg (FAU)  Erlangen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,4]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1411270111"},{"key":"e_1_2_8_3_1","unstructured":"ASHA (American Speech\u2010Language\u2010Hearing Association). 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