Your browser doesn't support javascript.
loading
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Afridi, Tehseen Ullah Khan; Fatima, Ambrin; Satti, Humayoon Shafique; Akram, Zaineb; Yousafzai, Imran Khan; Naeem, Wajahat Bin; Fatima, Nasreen; Ali, Asmat; Iqbal, Zafar; Khan, Ayaz; Shahzad, Muhammad; Liu, Chunyu; Toft, Mathias; Zhang, Feng; Tariq, Muhammad; Davis, Erica E; Khan, Tahir N.
Afiliación
  • Afridi TUK; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Fatima A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, 74800, Pakistan.
  • Satti HS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Akram Z; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Yousafzai IK; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Naeem WB; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Fatima N; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
  • Ali A; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, 74800, Pakistan.
  • Iqbal Z; Department of Neurology, Oslo University Hospital, Oslo, Norway.
  • Khan A; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Shahzad M; Department of Neurosurgery, District Headquarter Hospital, Kohat, Pakistan.
  • Liu C; International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200030, China.
  • Toft M; Department of Neurology, Oslo University Hospital, Oslo, Norway.
  • Zhang F; Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
  • Tariq M; Institute of Medical Genetics and Genomics, Fudan University, Shanghai, 200438, China.
  • Davis EE; National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan.
  • Khan TN; Advanced Center for Translational and Genetic Medicine, Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA. EriDavis@luriechildrens.org.
Mol Genet Genomics ; 299(1): 55, 2024 May 21.
Article en En | MEDLINE | ID: mdl-38771357
ABSTRACT
Neurodevelopmental disorders (NDDs) are a clinically and genetically heterogeneous group of early-onset pediatric disorders that affect the structure and/or function of the central or peripheral nervous system. Achieving a precise molecular diagnosis for NDDs may be challenging due to the diverse genetic underpinnings and clinical variability. In the current study, we investigated the underlying genetic cause(s) of NDDs in four unrelated Pakistani families. Using exome sequencing (ES) as a diagnostic approach, we identified disease-causing variants in established NDD-associated genes in all families, including one hitherto unreported variant in RELN and three recurrent variants in VPS13B, DEGS1, and SPG11. Overall, our study highlights the potential of ES as a tool for clinical diagnosis.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Linaje / Proteínas de Transporte Vesicular / Estudios de Asociación Genética / Trastornos del Neurodesarrollo / Secuenciación del Exoma / Proteína Reelina Límite: Child / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomics Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Linaje / Proteínas de Transporte Vesicular / Estudios de Asociación Genética / Trastornos del Neurodesarrollo / Secuenciación del Exoma / Proteína Reelina Límite: Child / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Mol Genet Genomics Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA Año: 2024 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Alemania