{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T04:30:35Z","timestamp":1771648235892,"version":"3.50.1"},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2024-0428_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>To study the clinical and genotypic spectrum of patients with <jats:italic>HNF-1\u00df<\/jats:italic> deletions (MODY 5) at a tertiary care hospital.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0428_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>This study included four patients from the Department of Endocrinology at Sher-i-Kashmir Institute of Medical Sciences Srinagar with a strong clinical suspicion of MODY 5. Genetic analysis, including a monogenic gene panel comprising 78 genes associated with MODY and other similar forms of monogenic diabetes, was done. Dosage analysis of <jats:italic>HNF 1B<\/jats:italic> by Multiplex Ligand-dependent Probe Amplification (MLPA) was performed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0428_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>The mean age of patients was 22.25 years with a male-to-female ratio of 3:1. Associated phenotypic features included neurodevelopmental disorder in all four patients, insulin resistance in two patients (2\/4) and alopecia in three patients (3\/4). One patient had clinical and biochemical hyperandrogenism. All patients had renal malformations, and one patient had a Mullerian anomaly. Family history was present in 1 patient. All patients had pancreatic abnormalities, the most common type being dorsal agenesis of the pancreas (3\/4), followed by annular pancreas (1\/4). All patients had a genetic deletion of the gene <jats:italic>HNF1B<\/jats:italic> on chromosome 17 with a deletion interval of (?_37686431)_(37745059_?), (?_37687281)-(37744884_?), comprising exons 1 to 9.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2024-0428_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>It is imperative to maintain a high index of suspicion for MODY 5 in patients presenting with renal anomalies and diabetes, even in the absence of a family history. Early identification allows for screening family members and ensures a comprehensive approach to identifying and managing other abnormalities in these patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2024-0428","type":"journal-article","created":{"date-parts":[[2024,10,14]],"date-time":"2024-10-14T16:20:53Z","timestamp":1728922853000},"page":"947-953","source":"Crossref","is-referenced-by-count":2,"title":["Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital"],"prefix":"10.1515","volume":"37","author":[{"given":"Raiz A.","family":"Misgar","sequence":"first","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences (SKIMS) , Srinagar , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajaz","family":"Qadir","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences (SKIMS) , Srinagar , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shariq Rashid","family":"Masoodi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences (SKIMS) , Srinagar , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shruthi","family":"Jayaram","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , Rajarajeshwari Medical College and Hospital , Bangalore , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankit","family":"Chhabra","sequence":"additional","affiliation":[{"name":"Department of Endocrinology , 29078 Sher-i-Kashmir Institute of Medical Sciences (SKIMS) , Srinagar , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shantala","family":"Jayaram","sequence":"additional","affiliation":[{"name":"Fellowship in Pediatric Endocrinology , Pediatric Endocrinologist at Sakra World Hospital , Bangalore , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Venkatesan","family":"Radha","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics , Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes , Chennai , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sundarmoorthy","family":"Gopi","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics , Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes , Chennai , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viswanathan","family":"Mohan","sequence":"additional","affiliation":[{"name":"Department of Diabetology , Madras Diabetes Research Foundation & Dr Mohan\u2019s Diabetes Specialities Centre , Chennai , India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sekar","family":"Kanthimathi","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics , Madras Diabetes Research Foundation, ICMR Centre for Advanced Research on Diabetes , Chennai , India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2024,10,15]]},"reference":[{"key":"2024111114160036264_j_jpem-2024-0428_ref_001","doi-asserted-by":"crossref","unstructured":"Hattersley, AT, Greeley, SAW, Polak, M, Rubio-Cabezas, O, Nj\u00f8lstad, PR, Mlynarski, W, et al.. ISPAD Clinical Practice Consensus guidelines 2018: the diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2018;19:47\u201363. https:\/\/doi.org\/10.1111\/pedi.12772.","DOI":"10.1111\/pedi.12772"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_002","doi-asserted-by":"crossref","unstructured":"Agarwal, K, Chapla, A, Chandramohan, A, Singh, CJ, Thomas, N, Jebasingh, FK. Diabetes mellitus with renal and M\u00fcllerian anomalies. AACE Clin. Case Rep 2022;8:22\u20134. https:\/\/doi.org\/10.1016\/j.aace.2021.06.012.","DOI":"10.1016\/j.aace.2021.06.012"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_003","doi-asserted-by":"crossref","unstructured":"Mateus, JC, Rivera, C, O\u2019Meara, M, Valenzuela, A, Lizcano, F. Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review. Clin Diabetes Endocrinol 2020;6:1\u20138. https:\/\/doi.org\/10.1186\/s40842-020-00103-6.","DOI":"10.1186\/s40842-020-00103-6"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_004","doi-asserted-by":"crossref","unstructured":"Kanthimathi, S, Balamurugan, K, Mohan, V, Shanthirani, CS, Gayathri, V, Radha, V. Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities. Ann Hum Genet 2015;79:10\u201319. https:\/\/doi.org\/10.1111\/ahg.12093.","DOI":"10.1111\/ahg.12093"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_005","doi-asserted-by":"crossref","unstructured":"Ferriman, D, Gallway, JD. Clinical assessment of body hair growth in women. J Clin Endocrinol Metab 1961;21:1440\u20137. https:\/\/doi.org\/10.1210\/jcem-21-11-1440.","DOI":"10.1210\/jcem-21-11-1440"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_006","doi-asserted-by":"crossref","unstructured":"Grimbizis, GF, Gordts, S, Di Spiezio Sardo, A, Exacoustos, C, Van Schoubroeck, D, Bermejo, C, et al.. The ESHRE-ESGE consensus on the classification of female genital tract congenital anomalies. Gynecol Surg 2013;10:199\u2013212. https:\/\/doi.org\/10.1007\/s10397-013-0800-x.","DOI":"10.1007\/s10397-013-0800-x"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_007","doi-asserted-by":"crossref","unstructured":"Roehlen, N, Hilger, H, Stock, F, Gl\u00e4ser, B, Guhl, J, Schmitt-Graeff, A, et al.. 17q12 deletion syndrome as a rare cause for diabetes mellitus type MODY5. J Clin Endocrinol Metab 2018;103:3601\u201310. https:\/\/doi.org\/10.1210\/jc.2018-00955.","DOI":"10.1210\/jc.2018-00955"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_008","doi-asserted-by":"crossref","unstructured":"Richards, S, Aziz, N, Bale, S, Bick, D, Das, S, Gastier-foster, J, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and Genomics and the association for molecular pathology. Genet Med 2015;17:405\u201323. https:\/\/doi.org\/10.1038\/gim.2015.30.","DOI":"10.1038\/gim.2015.30"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_009","doi-asserted-by":"crossref","unstructured":"Hamilton, JB. Patterned loss of hair in man; types and incidence. Ann N Y Acad Sci 1951;53:708\u201328. https:\/\/doi.org\/10.1111\/j.1749-6632.1951.tb31971.x.","DOI":"10.1111\/j.1749-6632.1951.tb31971.x"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_010","doi-asserted-by":"crossref","unstructured":"Ge, S, Yang, M, Gong, W, Chen, W, Dong, J, Liao, L. Case report: a case of HNF1B mutation patient with first presentation of diabetic ketosis. Front Endocrinol 2022:917819. https:\/\/doi.org\/10.3389\/fendo.2022.917819.","DOI":"10.3389\/fendo.2022.917819"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_011","doi-asserted-by":"crossref","unstructured":"Faguer, S, Chassaing, N, Bandin, F, Prouheze, C, Garnier, A, Casemayou, A, et al.. The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney Int 2014;86:1007\u201315. https:\/\/doi.org\/10.1038\/ki.2014.202.","DOI":"10.1038\/ki.2014.202"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_012","doi-asserted-by":"crossref","unstructured":"Dubois-Laforgue, D, Cornu, E, Saint-Martin, C, Coste, J, Bellann\u00e9-Chantelot, C, Timsit, J, Monogenic Diabetes Study Group of the Soci\u00e9t\u00e9 Francophone du Diab\u00e8te. Diabetes, associated clinical spectrum, long-term prognosis, and genotype\/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects. Diabetes Care 2017;40:1436\u201343. https:\/\/doi.org\/10.2337\/dc16-2462.","DOI":"10.2337\/dc16-2462"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_013","doi-asserted-by":"crossref","unstructured":"Duval, H, Michel-Calemard, L, Gonzales, M, Loget, P, Beneteau, C, Buenerd, A, et al.. Fetal anomalies associated with HNF1Bmutations: report of 20 autopsy cases. Prenat Diagn 2016;36:744\u201351. https:\/\/doi.org\/10.1002\/pd.4858.","DOI":"10.1002\/pd.4858"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_014","doi-asserted-by":"crossref","unstructured":"Bellann\u00b4 e-Chantelot, C, Clauin, S, Chauveau, D, Collin, P, Daumont, M, Douillard, C, et al.. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity onset diabetes of the young (MODY)5. Diabetes 2005;54:3126\u201332. https:\/\/doi.org\/10.2337\/diabetes.54.11.3126.","DOI":"10.2337\/diabetes.54.11.3126"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_015","doi-asserted-by":"crossref","unstructured":"Clissold, RL, Shaw-Smith, C, Turnpenny, P, Bunce, B, Bockenhauer, D, Kerecuk, L, et al.. Chromosome17q12microdeletionsbutnotintra genic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int 2016;90:203\u201311. https:\/\/doi.org\/10.1016\/j.kint.2016.03.027.","DOI":"10.1016\/j.kint.2016.03.027"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_018","doi-asserted-by":"crossref","unstructured":"Moreno-De-Luca, D, SGENE Consortium, Mulle, JG, Simons Simplex Collection Genetics Consortium, Kaminsky, EB, Sanders, SJ, et al.. Deletion 17q12 is a recurrent copy number variant that confers high\u00a0risk of autism and schizophrenia. Am J Hum Genet 2010;87:618\u201330. https:\/\/doi.org\/10.1016\/j.ajhg.2010.10.004.","DOI":"10.1016\/j.ajhg.2010.10.004"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_019","doi-asserted-by":"crossref","unstructured":"Bedont, JL, Le Gates, TA, Slat, EA, Byerly, MS, Wang, H, Hu, J, et al.. Lhx1 controls terminal differentiation and circadian function of the suprachiasmatic nucleus. Cell Rep 2014;7:609\u201322. https:\/\/doi.org\/10.1016\/j.celrep.2014.03.060.","DOI":"10.1016\/j.celrep.2014.03.060"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_020","doi-asserted-by":"crossref","unstructured":"Girirajan, S, Dennis, MY, Baker, C, Malig, M, Coe, BP, Campbell, CD, et al.. Refinement and discovery of new hotspots of copy number variation associated with autism spectrum disorder. Am J Hum Genet 2013;92:221\u201337. https:\/\/doi.org\/10.1016\/j.ajhg.2012.12.016.","DOI":"10.1016\/j.ajhg.2012.12.016"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_021","doi-asserted-by":"crossref","unstructured":"Zhang, L, Fang, Y, Cheng, X, Lian, Y, Zeng, Z, Wu, C, et al.. The potential protective effect of curcumin on amyloid-b-42 induced cytotoxicity in HT-22 cells. BioMed Res Int 2018;2018:8134902. https:\/\/doi.org\/10.1155\/2018\/8134902.","DOI":"10.1155\/2018\/8134902"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_016","doi-asserted-by":"crossref","unstructured":"Bernardini, L, Gimelli, S, Gervasini, C, Carella, M, Baban, A, Frontino, G, et al.. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis 2009;4:25. https:\/\/doi.org\/10.1186\/1750-1172-4-25.","DOI":"10.1186\/1750-1172-4-25"},{"key":"2024111114160036264_j_jpem-2024-0428_ref_017","doi-asserted-by":"crossref","unstructured":"Kornfeld, JW, Baitzel, C, K\u00f6nner, AC, Nicholls, HT, Vogt, MC, Herrmanns, K, et al.. Obesity-induced overexpression of miR-802 impairs glucose metabolism through silencing of Hnf1b. Nature 2013;494:111\u20135. https:\/\/doi.org\/10.1038\/nature11793.","DOI":"10.1038\/nature11793"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0428\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0428\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T14:17:13Z","timestamp":1731334633000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2024-0428\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,15]]},"references-count":21,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,9,20]]},"published-print":{"date-parts":[[2024,11,26]]}},"alternative-id":["10.1515\/jpem-2024-0428"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2024-0428","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"value":"0334-018X","type":"print"},{"value":"2191-0251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,10,15]]}}}