Portal de Periódicos da CAPES

Proceedings of the 1st Liaquat University of Medical & Health Sciences (LUMHS) International Medical Research Conference

2017; BioMed Central; Volume: 22; Issue: S1 Linguagem: Inglês

10.1186/s40001-017-0296-3

2047-783X

Mohsin Iqbal, Marie-Veronique Clement-Pervaiz, Muhammad Jaffer Ansari, Shazib Pervaiz, Salma Sheikh, Shahjahan Katpar, Sultan Ayoub Meo, Kamran Sattar, Susie Schofield, Ahmet Kağan Karabulut, Amir Iqbal Memon, Farah Naz Memon, Hafeez Ahmed, Aneela Rahman, Ikram Din Ujjan, Mishal Ahmed, Javed Altaf, Muhammad Adeel Mahesar, Taimur Jatoi, Jewat Sunder, Satti Jewat, Aziz Memon, Hinna Feroz, Roomi Aijaz, Kolachi Hussain Bux, Muhammad Imran Rathore, Samreen Memon, Pushpa Goswami, Jaweria Samejo, Mona Humaira, Kashif Zakria, Razia Hanif Ghani, Hanif Ghani, Shoaib Ansari, Muhammad Akbar Nizamani, Jan Muhammad Memon, Khalid Iqbal Talpur, Inayat Ullah Memon, Khuda Bux Mangrio, Shahzad Shaikh, Mahesh Kumar, S. M. Yasir Arafat, Naveera Fatima, Mariya Qazi, Syed Fasih Ahmed Hashmi, Muhammad Ali Bohyo, Seema Bibi, Raheel Sikundar, Yaqoob Shahani, Ali Muhammad Waryah, Umbreen Bano, Pashmina Sheikh, Samina Gul, Naveera Rafique, Samina Gul Memon, Sobia Wali Muhammad, Yasir Arfat Memon, Shehzad Z. Sheikh, Muhammad Khalid Shaikh, Gulshad Wagan, Pushpa Chetan Das, Sana Zahiruddin, Neeta Sham, Nigar Jabeen, Sanam Maree, Binafsha Manzoor Syed, Bikha Ram Derajani, Altaf Talpur, Sharjeel Abbas, Abdul Ghaffar Memon, Adeel Abbas, Madiha Iqbal, Waseem Riaz, Mohsin Hussain, Fahmeena Qadri, Abdul Rehman Shaikh, Arshi Naz, Abdullah Kamran Soomro, Doulat Rai Bajaj, Shaista Shah, Muhammad Asif Syed, Aneela Rahman, Tahir Shamsi, Aijaz Qadir Patoli, Nusrat Sehto, Shaista Aijaz, Aisha Arshad, Samina Naz Mukry, Madiha Saud, Iffat Shamim, Muhammad Nadeem, Tahir Shamsi, Ammar Hameed Khan, Muhammad Muneeb, Asra Talpur, Farzana Chang, Furqan Ahmed Bhatti, Sadia Effendi, Fahad Ahmed Memon, Khalida Naz Memon, Pashma Memon, Gulzar Usman, Bilal Razzaq Memon, Faheem Ahmed Memon, Faiza Memon, Aneela Atta Ur Rahmaan, Muhammad Ilyas Siddiqui, Faiza Ahmed, Feriha Fatima, Farhana Rajpar, Farheen Shaikh, Muhammad Yousuf Memon, Tazeen Shah, Shafaq Ansari, Fayaz Hussian Mangi, Jawaid Naeem Qureshi, Naeem Ahmed Laghari, Fiza Shah Syed, Madiha Shah, Sanam Pahnwar, Hina Riaz, Zulfiqar Ali Laghari, Suleman pirzada, Hina Shaikh, Shaikh Jeeaindo, Hidayatullah Mahesar, Naem Tarique Narejo, Maria Jawed Badvi, Jawed Ahmed Badvi, Kulsoom Jawed, Mohsin Iqbal Haroon, Nadia Khan, Naheed Perveen, Naveena Fatima, Munira Borhany, Nida Anwar, Imran Naseer, Rehan Ansari, Samson Boota, Mustansir Zaidi, Nazia Hafeez, Faheem Ahmed Memon, Parveen Akhtar, Zanab Khatoon, Miss Vectoria, Ghulam Abass, Rafeen Talpur, Rafiq Ahmed, Roohi Naz, Ali Raza Memon, Zainab Manzoor Memon, Raheela Munwar, Sajida Rajpar, Fareen Memon, Miss Bilquees, Razia Shoukat, Sadia Abbasi, Sadia Shahmeer Qazi, Sama paras, Sana Fatima, Abdul Rehman Shaikh, Sana Zaheeruddin, Shahid Hussain Memon, Mahjabeen Shaikh, Sara Khalid Memon, Sidra Qadir, Sumaira Shaikh, Syed Fasih Ahmad, Zeeshan Nasir, Syna Pervaiz Singha, Afroz S Kazi, Usha Isaac, Tanweer Ahmed Shaikh, Tarachand Devrajani, Syed Zulfiquar Ali Shah, Samar Raza, Urooj Bhatti, Tarim Nayab, Nehan Syed, Yar Muhammad Waryah, Uzma Zaidi, Saba Shahid, Naveen Fatima, Sharik Ahmed, Gul Safaida,

Dental Education, Practice, Research

Hereditary hearing impairment is one of the common monogenic disorder in Pakistan.It is estimated that around 0.16% peoples have moderate to profound prelingual hearing loss while one-third of people above 60 years have some sort hearing problem.I had enrolled 150 families with prelingual hearing loss.Initial screening of these families was done by genotyping reported loci with fluorescently labelled STR markers.Families showing linkage with specific loci was confirmed by NGS based platforms like OtoSeqand Sanger sequencing.Combination of these techniques led towards the identification.Combination of these techniques led towards the identification of 34 pathogenic variants in GJB2, MYO7A, CDH23, MARVELD2 and POU3F4 in 40 families.Fifteen of these variants have not reported earlier.Families remain unlinked with reported loci were subjected for Genome wide scan, SNP analysis and exome sequencing.A novel deafness locus DFNB79 were mapped though GWS and three Novel gene GIPC3, TAPRN and NARS2 were identified by the combination of Linkage analysis and next generation exome sequencing.Using NGS based platforms like OtoSeq, GWS, SNP analysis and exome sequencing in families segregating hearing loss, will contribute to the identification of common and population specific mutations, early diagnosis, genetic counseling and molecular epidemiology.