Publications

Poster Presentation

• Genetic glomerular disease in Asia: design and methods for DRAGoN (Deciphering diversities: renal asian genetics network) study. H. Ng, I.D. Liu, J.L.Ng, C.C. Khor, H.L.A. Loh, P.H. Tan, F. Schaefer, H.K. Yap. IPNA 2016. Brazil. 20 to 24 September 2016. Please click here ↗ (opens in new tab) for the poster.

• Mutation spectrum among Asian pediatric patients with glomerulopathy. Jun Li Ng, Isaac Desheng Liu, Mya Than, Sadaf Asim, Iftikhar Ijaz, Duc Quang Nguyen, Thi Minh Tan Nguyen, Yok Chin Yap, Caroline Eng, Syed Saimul Huque, Indra Ganesan, Puay Hoon Tan, Alwin Loh, Sonia Davila, Beata S Lipska-Zietkiewicz, Franz Schaefer, Hui Kim Yap, Kar Hui Ng. Venice 17-21 October 2019. Please click here ↗ (opens in new tab) for poster

Oral Presentation

• Clinical and Genetic Landscapes of Proteinuric Kidney Diseases among Southeast and South Asians: The DRAGoN Study. Kar-Hui Ng, David  Liangjian Lu, Yok Chin Yap, Duc Quang Nguyen, Yiong Huak Chan, Jun-Li Ng, Yao-Chun Zhang, Chang-Yien Chan, Mya Than, Isaac Desheng Liu, Sadaf Asim, Khemchand N Moorani, Bilquis Naeem, Iftikhar Ijaz, Thi Minh Tan Nguyen, Ming Lee Lee, Caroline Eng, Syed Saimul Huque, Yong-Hong Ng, Indra Ganesan, Sing Ming Chao, Siew Le Chong, Puay Hoon Tan, Alwin Loh, Sonia Davila, Vikrant Kumar, Joanna Zhi Jie Ling, Rajesh Babu Moorakonda, Karen Mei Ling, Alvin Yu Jin Ng , Kok Siong Poon, Franz Schaefer, Beata S Lipska-Zietkiewicz, Hui-Kim Yap; on behalf of Deciphering Diversities: Renal Asian Genetics Network (DRAGoN). Asian Congress of Paediatrics Nephrology 2021. Taiwan. 29 Mar to 1 Apr (Dr Kar Hui was awarded the Young Investigator Award during the congress)

Journal Publication

• Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN)

  • Liangjian Lu, Yok-Chin Yap, Duc Quang Nguyen, Yiong-Huak Chan, Jun-Li Ng, Yao-Chun Zhang, Chang-Yien Chan, Mya Than, Isaac Desheng Liu, Sadaf Asim, Khemchand Moorani, Bilquis Naeem, Iftikhar Ijaz, Thi Minh Tan Nguyen, Ming-Lee Lee, Caroline Eng, Syed Saimul Huque, Yong-Hong Ng, Indra Ganesan, Sing-Ming Chao, Siew-Le Chong, Puay-Hoon Tan, Alwin Loh, Sonia Davila, Vikrant Kumar, Joanna Zhi-Jie Ling, Rajesh Babu Moorakonda, Karen Mei-Ling Tan, Alvin Yu-Jin Ng, Kok-Siong Poon, Franz Schaefer, Beata Lipska-Zietkiewicz, Hui-Kim Yap, Kar-Hui Ng 1 5, Deciphering Diversities: Renal Asian Genetics Network (DRAGoN). Clin Genet. 2022 Jan 22. doi: 10.1111/cge.14116.

  • Abstract

  • Multinational studies have reported monogenic etiologies in 25%-30% of children with steroid-resistant nephrotic syndrome. Such large studies are lacking in Asia. We established Deciphering Diversities: Renal Asian Genetics Network (DRAGoN) and aimed to describe the genetic and clinical spectrums in Asians. We prospectively studied a cohort of 183 probands with suspected genetic glomerulopathies from South and Southeast Asia, of whom 17% had positive family history. Using multi-gene panel sequencing, we detected pathogenic variants in 26 (14%) probands, of whom one-third had COL4A4 or COL4A5 variants (n = 9, 5%). Of those with COL4A5 defects, only 25% had features suggestive of Alport syndrome. Besides traditional predictors for genetic disease (positive family history and extrarenal malformations), we identified novel predictors, namely older age (6.2 vs. 2.4 years; p = 0.001), hematuria (OR 5.6; 95% CI 2.1-14.8; p < 0.001), and proteinuria in the absence of nephrotic syndrome (OR 4.6; 95% CI 1.8-11.8; p = 0.001) at first manifestation. Among patients who first presented with proteinuria without nephrotic syndrome, the genetic diagnostic rates were >60% when a second risk factor (positive family history or extrarenal manifestation) co-existed. The genetic spectrum of glomerulopathies appears different in Asia. Collagen IV genes may be included in sequencing panels even when suggestive clinical features are absent.

  • Keywords: Asia; genetics; glomerulopathy; nephrotic syndrome.