Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease

Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease

Hirschsprung’s disease (HSCR) is a disorder associated with congenital absence of ganglion cells in the gastrointestinal tract. Molecular analyses have identified variants in various genes including RET, GDNF, EDN3 and EDNRB that are involved in the development, migration and survival of neural cell...

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Main Authors: Nor Azian Abdul Murad, Then, Sue-Mian, Mohd Ridhwan Abd Razak, Conjeevaram Rajendrarao Thambidorai, Sri Noraima Othman, Rosniza Mohamad Hussain, Mohan Nallusamy, Syed Zulkifli Syed Zakaria, Isa Mohammad Rose, Zarina Latiff, Rahman Jamal
Format: Article
Language:English
Published: Pusat Perubatan Universiti Kebangsaan Malaysia 2017
Online Access:http://journalarticle.ukm.my/13243/
http://journalarticle.ukm.my/13243/
http://journalarticle.ukm.my/13243/1/33-85-1-PB.pdf
id ukm-13243
recordtype eprints
spelling ukm-132432019-08-06T11:09:32Z http://journalarticle.ukm.my/13243/ Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease Nor Azian Abdul Murad, Then, Sue-Mian Mohd Ridhwan Abd Razak, Conjeevaram Rajendrarao Thambidorai, Sri Noraima Othman, Rosniza Mohamad Hussain, Mohan Nallusamy, Syed Zulkifli Syed Zakaria, Isa Mohammad Rose, Zarina Latiff, Rahman Jamal, Hirschsprung’s disease (HSCR) is a disorder associated with congenital absence of ganglion cells in the gastrointestinal tract. Molecular analyses have identified variants in various genes including RET, GDNF, EDN3 and EDNRB that are involved in the development, migration and survival of neural cells. Variants in the receptor tyrosine kinase (RET) are most common and have been identified in 10-20% of sporadic HSCR patients. The objective of this study was to screen for RET gene variants in Malaysian patients with HSCR. Thirty-two patients with HSCR and 30 normal controls were recruited for this study. Mutations were screened using the Polymerase Chain Reaction – Denaturing High Performance Liquid Chromatography (PCR-dHPLC) approach. Mutations identified were then confirmed using Sanger sequencing. We identified one novel rare variant in exon 4 (A268A c807 G>C) in one patient. We also identified the common coding sequence variantsA45A (c135G>A), A432A (c1296A>G), L769L (c2307 T>G) and the G691S in our cohort of patients. In conclusion, our Malaysian patients with HSCR diseases showed the presence of similar RET gene common variants which have been described in other populations. We have also identified a novel variant in exon 4 (A268A). Pusat Perubatan Universiti Kebangsaan Malaysia 2017 Article PeerReviewed application/pdf en http://journalarticle.ukm.my/13243/1/33-85-1-PB.pdf Nor Azian Abdul Murad, and Then, Sue-Mian and Mohd Ridhwan Abd Razak, and Conjeevaram Rajendrarao Thambidorai, and Sri Noraima Othman, and Rosniza Mohamad Hussain, and Mohan Nallusamy, and Syed Zulkifli Syed Zakaria, and Isa Mohammad Rose, and Zarina Latiff, and Rahman Jamal, (2017) Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease. Asia-Pacific Journal of Molecular Medicine, 7 (1). pp. 1-6. ISSN 2232-0326 http://spaj.ukm.my/apjmm/index.php/apjmm/issue/view/14
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institution_category Local University
institution Universiti Kebangasaan Malaysia
building UKM Institutional Repository
collection Online Access
language English
description Hirschsprung’s disease (HSCR) is a disorder associated with congenital absence of ganglion cells in the gastrointestinal tract. Molecular analyses have identified variants in various genes including RET, GDNF, EDN3 and EDNRB that are involved in the development, migration and survival of neural cells. Variants in the receptor tyrosine kinase (RET) are most common and have been identified in 10-20% of sporadic HSCR patients. The objective of this study was to screen for RET gene variants in Malaysian patients with HSCR. Thirty-two patients with HSCR and 30 normal controls were recruited for this study. Mutations were screened using the Polymerase Chain Reaction – Denaturing High Performance Liquid Chromatography (PCR-dHPLC) approach. Mutations identified were then confirmed using Sanger sequencing. We identified one novel rare variant in exon 4 (A268A c807 G>C) in one patient. We also identified the common coding sequence variantsA45A (c135G>A), A432A (c1296A>G), L769L (c2307 T>G) and the G691S in our cohort of patients. In conclusion, our Malaysian patients with HSCR diseases showed the presence of similar RET gene common variants which have been described in other populations. We have also identified a novel variant in exon 4 (A268A).
format Article
author Nor Azian Abdul Murad,
Then, Sue-Mian
Mohd Ridhwan Abd Razak,
Conjeevaram Rajendrarao Thambidorai,
Sri Noraima Othman,
Rosniza Mohamad Hussain,
Mohan Nallusamy,
Syed Zulkifli Syed Zakaria,
Isa Mohammad Rose,
Zarina Latiff,
Rahman Jamal,
spellingShingle Nor Azian Abdul Murad,
Then, Sue-Mian
Mohd Ridhwan Abd Razak,
Conjeevaram Rajendrarao Thambidorai,
Sri Noraima Othman,
Rosniza Mohamad Hussain,
Mohan Nallusamy,
Syed Zulkifli Syed Zakaria,
Isa Mohammad Rose,
Zarina Latiff,
Rahman Jamal,
Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease
author_facet Nor Azian Abdul Murad,
Then, Sue-Mian
Mohd Ridhwan Abd Razak,
Conjeevaram Rajendrarao Thambidorai,
Sri Noraima Othman,
Rosniza Mohamad Hussain,
Mohan Nallusamy,
Syed Zulkifli Syed Zakaria,
Isa Mohammad Rose,
Zarina Latiff,
Rahman Jamal,
author_sort Nor Azian Abdul Murad,
title Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease
title_short Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease
title_full Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease
title_fullStr Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease
title_full_unstemmed Preliminary study shows novel variant detected in the screening of RET gene in Malaysian patients with Hirschsprung’s disease
title_sort preliminary study shows novel variant detected in the screening of ret gene in malaysian patients with hirschsprung’s disease
publisher Pusat Perubatan Universiti Kebangsaan Malaysia
publishDate 2017
url http://journalarticle.ukm.my/13243/
http://journalarticle.ukm.my/13243/
http://journalarticle.ukm.my/13243/1/33-85-1-PB.pdf
first_indexed 2023-09-18T20:04:25Z
last_indexed 2023-09-18T20:04:25Z
_version_ 1777407062687350784

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