{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T16:14:19Z","timestamp":1773332059853,"version":"3.50.1"},"reference-count":12,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,1,21]]},"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:p>We describe siblings born from non-consanguineous parents, with older sibling having asymptomatic hyperglycaemia while younger sibling presented with low birth weight and persistent hyperglycaemia from first month of life. Our case, the older sibling was heterozygous for paternally inherited <jats:italic>GCK<\/jats:italic> pathogenic variant resulting in diabetes of maturity-onset in the young (MODY) manifested as mild fasting hyperglycaemia. <jats:italic>GCK<\/jats:italic> gene sequencing revealed that the younger sibling was compound heterozygous for missense mutations (two) combined in a novel <jats:italic>GCK<\/jats:italic>-permanent neonatal diabetes mellitus (PNDM) genotype. Thus, heterozygous inactivating <jats:italic>GCK<\/jats:italic> mutations are likely to lead to maturity-onset diabetes of the young type 2 (MODY 2) and the homozygous inactivating or compound heterozygous <jats:italic>GCK<\/jats:italic> mutations are a cause of PNDM.<\/jats:p>","DOI":"10.1136\/bcr-2021-246699","type":"journal-article","created":{"date-parts":[[2022,2,28]],"date-time":"2022-02-28T10:51:04Z","timestamp":1646045464000},"page":"e246699","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Variable presentations of <i>GCK<\/i> gene mutation in a family"],"prefix":"10.1136","volume":"15","author":[{"given":"Chirantap Markand","family":"Oza","sequence":"first","affiliation":[{"name":"Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madhura Bharat","family":"Karguppikar","sequence":"additional","affiliation":[{"name":"Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaman","family":"Khadilkar","sequence":"additional","affiliation":[{"name":"Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India"},{"name":"Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3399-3235","authenticated-orcid":false,"given":"Anuradha","family":"Khadilkar","sequence":"additional","affiliation":[{"name":"Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, Pune, Maharashtra, India"},{"name":"Interdisciplinary School of Health Sciences, Savitribai Phule Pune University, Pune, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2022,2,28]]},"reference":[{"key":"2025082723122386000_15.2.e246699.1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2003.027821"},{"key":"2025082723122386000_15.2.e246699.2","doi-asserted-by":"crossref","unstructured":"Greeley SAW , McCauley MK , Philipson LH . Sperling, 10 - Monogenic Diabetes Mellitus: Neonatal Diabetes and Maturity-Onset Diabetes of the Young. In: Mark A , ed. Sperling, Sperling pediatric endocrinology. Fifth Edition. 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