{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:47:13Z","timestamp":1764172033334},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,8,16]],"date-time":"2011-08-16T00:00:00Z","timestamp":1313452800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maturity\u2010onset diabetes of the young type 2 (MODY2) is a form of monogenic diabetes, characterized by mild fasting hyperglycemia. MODY2 is caused by heterozygous mutations in the <jats:italic>GCK<\/jats:italic> gene that encodes the glucokinase enzyme. We describe the clinical features and the underlying genetic defect of MODY2 in a patient with atypical Greig cephalopolysyndactyly syndrome (GCPS). The patient presented with the limb formation and the craniofacial developmental abnormalities typical to GCPS, in addition to mental retardation and epilepsy (assigned as atypical syndrome). Fasting hyperglycemia in the diabetic range, impaired glucose tolerance, and lack of diabetes autoantibodies were compatible with MODY2. In order to delineate the genetic aberrations relevant both to MODY2 and Greig syndrome in this patient, we performed cytogenetic analysis, real\u2010time PCR of the <jats:italic>GCK<\/jats:italic> gene, and comparative genomic hybridization (CGH) array. Cytogenetic study has shown a microscopic detectable deletion in the 7p13\u201015 chromosomal region. Real\u2010time PCR demonstrated a deletion of the <jats:italic>GCK<\/jats:italic> gene in the patient but not her parents, and CGH array revealed a deleted region of approximately 12\u2009Mb in the 7p13\u201015 region. This deleted region included <jats:italic>GLI3<\/jats:italic> and <jats:italic>GCK<\/jats:italic> genes (where heterozygous mutations cause GCPS and MODY2, respectively), and many other contiguous genes. Our patient manifests a unique form of MODY2, where <jats:italic>GCK<\/jats:italic> gene deletion is part of a large deleted segment in the 7p13\u201015 chromosomal region. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33829","type":"journal-article","created":{"date-parts":[[2011,8,16]],"date-time":"2011-08-16T16:07:03Z","timestamp":1313510823000},"page":"2469-2472","source":"Crossref","is-referenced-by-count":6,"title":["MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome"],"prefix":"10.1002","volume":"155","author":[{"given":"Amnon","family":"Zung","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erwin","family":"Petek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruria","family":"Ben\u2010Zeev","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Schwarzbraun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sagi Josefsberg","family":"Ben\u2010Yehoshua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,8,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.2337\/dc10-S062"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80847-9"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-10"},{"key":"e_1_2_5_5_1","first-page":"S495","article-title":"A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. 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