Amniocentesis in DEND syndrome and medical termination of pregnancy: a rare disease
DOI:
https://doi.org/10.18203/2320-1770.ijrcog20260203Keywords:
DEND syndrome, Obstetric surveillance, Amniocentesis, Medical genetics, Genetic screening, MTP servicesAbstract
An interesting case of DEND Syndrome with history of genetic inheritance and manifestation in the first child. Case is being reported as it is one among the first cases to be confirmed antenatally by Amniocentesis at an obstetric centre in India. Only 60 cases have been reported worldwide as on date as per OMIM database. It has a prevalence of <1: 1000000 worldwide.
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References
Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y, et al.The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J Clin Endocrinol Metab. 2005;90(6):3174-8. DOI: https://doi.org/10.1210/jc.2005-0096
Safran M, Rosen N, Twik M, BarShir R, Iny Stein T, Dahary D, et al. Practical Guide to Life Science Databases. The genecards suite. 2022;27-56. Availaible at: https://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNJ11#aliases_descriptions.accessed on 23 October 2025. DOI: https://doi.org/10.1007/978-981-16-5812-9_2
Potassium channel, inwardly rectifying, subfamily J, member 11; Kir6.2. OMIM® Entry 618856, Diabetes Mellitus, Permanent Neonatal, 2, with or without neurologic features. Availaible at: https://www.omim.org/entry/618856?search=KCNJ11&highlight=KCNJ11. Accessed on 23 October 2025.
Diabetes mellitus, transient neonatal, 3; TNDM3. OMIM® Entry 610582. Available at: https://www.omim.org/entry/610582. Accessed on 23 October 2025.
Potassium channel, inwardly rectifying, subfamily J, member 11; Kir6.2 and related clinical phenotypes. OMIM Database. Available at: https://omim.org/ clinicalSynopsis/table?mimNumber=610582,618856,601820,616329. Accessed on 23 October 2025.
Diabetes mellitus, transient neonatal,3. Available at: https://omim.org/entry/610582. Accessed on 23 October 2025.
Flechtner I, de Lonlay P, Polak M. Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. Diabetes Metab. 2006;32(6):569-80. DOI: https://doi.org/10.1016/S1262-3636(07)70311-7
Vedovato N, Salguero MV, Greeley SAW, Yu CH, Philipson LH, Ashcroft FM. A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life. Diabetologia. 2024;67(5):940-51. DOI: https://doi.org/10.1007/s00125-024-06103-w
Knowledge on rare diseases and orphan drugs. Available at: https://www.orpha.net/en/disease/gene/ KCNJ11?name=KCNJ11&mode=gene#menu. Accessed on 23 October 2025.