Sohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, Asmat Shaheen, Gohar Zaman, Jawad Ahmed, Fahim Shah, Sundus Khwaja, Abid Jan, Nida Khan, Mohammad Azhar Kamal, Qamre Alam, Safdar Abbas, Saman Farman, Ahmed Waqas, Afnan Alkathiri, Abdullah Hamadi, Federico Santoni, Naseeb Ullah, Bisma Khalid, Stylianos E Antonarakis, Khalid A Fakhro, Muhammad Umair, Muhammad Ansar
OBJECTIVE: This study aims to clinically and genetically assess 30 unrelated consanguineous Pakistani families from various ethnic backgrounds, all exhibiting features of neurodevelopmental disorders (NDDs). METHODS: We conducted clinical, genetic, biochemical, and molecular analyses on 30 consanguineous families with NDDs enrolled from various regions of Pakistan. The likely molecular causes of primary microcephaly and NDDs were identified. Detailed clinical investigations and molecular diagnoses were performed using whole exome sequencing (WES) of the proband, followed by Sanger sequencing for validation and segregation in the available family members of the affected families...
2024: Frontiers in Medicine