{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T11:18:05Z","timestamp":1784546285800,"version":"3.55.0"},"reference-count":7,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Clin Med Insights Endocrinol Diabetes"],"published-print":{"date-parts":[[2025,2]]},"abstract":"\n Complex glycerol kinase deficiency (CGKD), also known as Xp21 contiguous gene deletion syndrome, is a rare X-linked recessive disorder resulting from partial deletion of the Xp21.3 chromosomal region. CGKD encompasses several loci, including glycerol kinase (\n GK<\/jats:italic>\n ), Duchenne muscular dystrophy (\n DMD<\/jats:italic>\n ), X-linked adrenal hypoplasia congenita (\n NR0B1<\/jats:italic>\n ), and intellectual developmental disorder (\n IL1RAPL1<\/jats:italic>\n ). We present the cases of two male siblings diagnosed with CGKD. The elder sibling was initially suspected of having congenital adrenal hypoplasia (CAH). Whole exome sequencing (WES) revealed an interstitial deletion of 6.6\u2009Mb on Xp21.3p21.1, encompassing critical genes including\n GK<\/jats:italic>\n ,\n DMD<\/jats:italic>\n ,\n NR0B1<\/jats:italic>\n , and\n IL1RAPL1.<\/jats:italic>\n The younger sibling was diagnosed shortly after birth based on family history, clinical and biochemical findings. The presented report highlights the diagnostic challenges associated with CGKD and the important role of genetic testing in confirming the diagnosis. A multidisciplinary team approach is necessary.\n <\/jats:p>","DOI":"10.1177\/11795514251317419","type":"journal-article","created":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T12:35:35Z","timestamp":1743424535000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Genetic and Clinical Characterization of Complex Glycerol Kinase Deficiency in Two Male Siblings: A Case Report"],"prefix":"10.1177","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6506-0632","authenticated-orcid":false,"given":"Kakha","family":"Bregvadze","sequence":"first","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nino","family":"Kheladze","sequence":"additional","affiliation":[{"name":"M. Iashvili Children\u2019s Central Hospital, Tbilisi, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nana Nino","family":"Tatishvili","sequence":"additional","affiliation":[{"name":"M. Iashvili Children\u2019s Central Hospital, Tbilisi, Georgia"},{"name":"David Tvildiani Medical University, Tbilisi, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nino","family":"Dikhaminjia","sequence":"additional","affiliation":[{"name":"M. Iashvili Children\u2019s Central Hospital, Tbilisi, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariam","family":"Ghughunishvili","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shorena","family":"Tchankvetadze","sequence":"additional","affiliation":[{"name":"Academician O. Gudushauri National Medical Center, Tbilisi, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tinatin","family":"Tkemaladze","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"},{"name":"M. Iashvili Children\u2019s Central Hospital, Tbilisi, Georgia"},{"name":"Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,3,31]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.04.003"},{"key":"e_1_3_4_3_2","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/humu.20424","article-title":"Deletion mapping in xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays","volume":"28","author":"Stanczak CM","year":"2007","unstructured":"Stanczak CM, Chen Z, Zhang YH, Nelson SF, McCabe ER. Deletion mapping in xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. Hum Mutat. 2007;28:235-242.","journal-title":"Hum Mutat"},{"key":"e_1_3_4_4_2","first-page":"24","article-title":"Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature","volume":"42","author":"Pizza A","year":"2023","unstructured":"Pizza A, Picillo E, Onore ME, et al. Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature. Acta Myol. 2023;42:24-30.","journal-title":"Acta Myol"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005660826652"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_4_7_2","doi-asserted-by":"crossref","first-page":"227","DOI":"10.5114\/pedm.2021.109681","article-title":"Complex glycerol kinase deficiency - long-term follow-up of two patients","volume":"27","author":"Wikiera B","year":"2021","unstructured":"Wikiera B, Jakubiak A, \u0141aczmanska I, Noczy\u0144ska A, \u015amigiel R. Complex glycerol kinase deficiency - long-term follow-up of two patients. Pediatr Endocrinol Diabetes Metab. 2021;27:227-231.","journal-title":"Pediatr Endocrinol Diabetes Metab"},{"key":"e_1_3_4_8_2","doi-asserted-by":"crossref","first-page":"911","DOI":"10.1111\/j.1651-2227.2004.tb02689.x","article-title":"Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis","volume":"93","author":"Hellerud C","year":"2004","unstructured":"Hellerud C, Wramner N, Erikson A, et al. Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis. Acta Paediatr. 2004;93:911-921.","journal-title":"Acta Paediatr"}],"container-title":["Clinical Medicine Insights: Endocrinology and Diabetes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795514251317419","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11795514251317419","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11795514251317419","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T20:00:14Z","timestamp":1777406414000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/11795514251317419"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":7,"alternative-id":["10.1177\/11795514251317419"],"URL":"https:\/\/doi.org\/10.1177\/11795514251317419","relation":{},"ISSN":["1179-5514","1179-5514"],"issn-type":[{"value":"1179-5514","type":"print"},{"value":"1179-5514","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,2]]},"article-number":"11795514251317419"}}