{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T01:02:05Z","timestamp":1768870925643,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T00:00:00Z","timestamp":1632787200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004571","name":"Minist\u00e8re des Affaires Sociales et de la Sant\u00e9","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004571","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the <jats:italic>SHH<\/jats:italic> (aliases <jats:italic>HHG1<\/jats:italic>, <jats:italic>SMMCI<\/jats:italic>, <jats:italic>TPT<\/jats:italic>, <jats:italic>TPTPS<\/jats:italic>, and <jats:italic>MCOPCB5<\/jats:italic>) gene region. However, interstitial deletions including <jats:italic>CNTNAP2<\/jats:italic> (aliases <jats:italic>Caspr2<\/jats:italic>, <jats:italic>KIAA0868<\/jats:italic>, and <jats:italic>NRXN4<\/jats:italic>) and excluding the <jats:italic>SHH<\/jats:italic> region are less common.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report the clinical and molecular characterization associated with pure 7q35 and 7q35q36.1 deletion in two unrelated patients as detected by oligonucleotide\u2010based array\u2010CGH analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The common clinical features were abnormal maternal serum screening during first\u2010trimester pregnancy, low occipitofrontal circumference at birth, hypotonia, abnormal feet, developmental delay, impaired language development, generalized seizures, hyperactive behavior, friendly personality, and cranio\u2010facial dysmorphism. Both deletions occurred de novo and sequencing of <jats:italic>CNTNAP2<\/jats:italic>, a candidate gene for epilepsy and autism showed absence of mutation on the contralateral allele.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Combined haploinsufficiency of <jats:italic>GALNTL5<\/jats:italic> (alias <jats:italic>GalNAc<\/jats:italic>\u2010<jats:italic>T5L<\/jats:italic>), <jats:italic>CUL1<\/jats:italic>, <jats:italic>SSPO<\/jats:italic> (aliases <jats:italic>SCO<\/jats:italic>\u2010<jats:italic>spondin<\/jats:italic>, <jats:italic>KIAA0543<\/jats:italic>, and <jats:italic>FLJ36112<\/jats:italic>), <jats:italic>AOC1<\/jats:italic> <jats:italic>(<\/jats:italic>alias <jats:italic>DAO<\/jats:italic>), <jats:italic>RHEB<\/jats:italic>, and especially <jats:italic>KMT2C<\/jats:italic> (alias <jats:italic>KIAA1506<\/jats:italic> and <jats:italic>HALR<\/jats:italic>) with monoallelic disruption of <jats:italic>CNTNAP2<\/jats:italic> may explain neurologic abnormalities, hypotonia, and exostoses. Haploinsufficiency of <jats:italic>PRKAG2<\/jats:italic> (aliases <jats:italic>AAKG<\/jats:italic>, <jats:italic>AAKG2<\/jats:italic>, <jats:italic>H91620p<\/jats:italic>, <jats:italic>WPWS<\/jats:italic>, and <jats:italic>CMH6<\/jats:italic>) and <jats:italic>KCNH2<\/jats:italic> (aliases <jats:italic>Kv11<\/jats:italic>.<jats:italic>1<\/jats:italic>, <jats:italic>HERG<\/jats:italic>, and <jats:italic>erg1<\/jats:italic>) genes may be responsible of long QT syndrome observed for one patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1645","type":"journal-article","created":{"date-parts":[[2021,9,28]],"date-time":"2021-09-28T12:51:18Z","timestamp":1632833478000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Two new cases of interstitial 7q35q36.1 deletion including <i>CNTNAP2<\/i> and <i>KMT2C<\/i>"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2766-8265","authenticated-orcid":false,"given":"Lucie","family":"Tosca","sequence":"first","affiliation":[{"name":"Service d'Histologie, Embryologie et Cytog\u00e9n\u00e9tique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lo\u00efc","family":"Dr\u00e9villon","sequence":"additional","affiliation":[{"name":"Service d'Histologie, Embryologie et Cytog\u00e9n\u00e9tique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aur\u00e9lie","family":"Mouka","sequence":"additional","affiliation":[{"name":"Service d'Histologie, Embryologie et Cytog\u00e9n\u00e9tique AP\u2010HP. Universit\u00e9 Paris Saclay H\u00f4pital Antoine B\u00e9cl\u00e8re Clamart France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laure","family":"Lecerf","sequence":"additional","affiliation":[{"name":"Service de Biochimie et G\u00e9n\u00e9tique AP\u2010HP. 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