Profile of monogenic diabetes: a Pan-India study.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Mohan Viswanathan, Amutha Anandakumar, Aarthy Ramasamy, Poongothai Subramani, Shanthirani Coimbatore Subramanian, Unnikrishnan Ranjit, Anjana Ranjit Mohan, Kanthimathi Sekar, Bodhini Dhanasekaran, Routray Phillips, Hemachitra Ramkumar, Gowthami Gowrinathan Thannoli, Naaraayan Sridevi A, Sureshkumar Pichakacheri, Saboo Banshi, Masoodi Shariq, Shruthi Jayaram, Singh Madhumitha, Shah Idrees A, Viswanathan Vijay, Chandni Radhakrishnan, Manikath Neeraj, Raghupathy Palani, Priyadarshini Sukanya, Jain Vandana, Sharma Rajni, Deshpande Neeta, Yajnik Chittaranjan Sakerlal, Dhadge Smita, Jog Kalpana, Rai Sandeep, Jali Mallikarjun V, Jali Sujatha M, Pachapure Shaila, Sidana Shivani, Ramuu Muthu, Killivalavan Dhanasekaran, Pande Arunkumar R, Radha Venkatesan, PAN INDIA Monogenic Study Collaborators Group from India
Аннотация
METHODS: Participants (n = 774) were recruited from 65 diabetes centres across India (http://monogenicdiabetes.in/Collaborators.html). Inclusion criteria were: age at diagnosis of diabetes ≤30 years; family history of diabetes in one or both parents; BMI ≤ 30 kg/m2; and absence of ketonuria. Monogenic diabetes was diagnosed based on pathogenic/ likely pathogenic mutations as per the American College of Medical Genetics and Genomics (ACMG) and Association of Medical Pathology (AMP) guidelines.
RESULTS: The overall prevalence of monogenic diabetes mutations was 15.5 % (120/774). Mutations in HNF1A MODY were the most frequent (n = 39,32.5 %), followed by HNF4A MODY (n = 20,16.7 %), HNF1B MODY (n = 16,13.3 %), ABCC8 MODY (n = 8,6.7 %), GCK MODY (n = 4,3.3 %), PDX1 MODY (n = 1,0.8 %), and INS MODY (n = 1,0.8 %). Syndromic forms of monogenic diabetes were identified in 31 individuals: Wolfram Syndrome (n = 15), Maternally Inherited Diabetes with Deafness (n = 12), and H syndrome (histiocytosis lymphadenopathy plus syndrome) (n = 4).
CONCLUSION: In this Pan India study, monogenic diabetes was confirmed in 15.5% of 774 individuals screened using predefined clinical criteria. Genetic testing in carefully phenotyped individuals with youth onset diabetes, could help to detect monogenic diabetes and offer precision treatment.