Identification of a novel homozygous missense (c.443A>T:p.N148I) mutation in BBS2 in a Kashmiri family with Bardet-Biedl syndrome

• Main Authors: Ali, Ghazanfar, Sadia, Foo, Jia Nee, Nasir, Abdul, Chang, Chu-Hua, Chew, Elaine GuoYan, Latif, Zahid, Azeem, Zahid, Ain-Ul-Batool, Syeda, Kazmi, Syed Akif Raza, Awan, Naheed Bashir, Khan, Abdul Hameed, Fazal-Ur-Rehman, Khalid, Madiha, Wali, Abdul, Sarwar, Samina, Akhtar, Wasim, Ahmed Abbasi, Ansar, Nisar, Rameez
• Other Authors: Lee Kong Chian School of Medicine (LKCMedicine)
• Format: Article
• Language: English
• Published: 2021
• Subjects: Science::Medicine; Bardet-Biedl Syndrome; Mutation
• Online Access: https://hdl.handle.net/10356/151083
• Institution: Nanyang Technological University

Background: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive inherited disorder with distinctive clinical feature such as obesity, degeneration of retina, polydactyly, and renal abnormalities. The study was aimed at finding out the disease-causing variant/s in patients exhibiting clinical f...