| Literature DB >> 25558065 |
Anas M Alazami1, Nisha Patel1, Hanan E Shamseldin1, Shamsa Anazi1, Mohammed S Al-Dosari2, Fatema Alzahrani1, Hadia Hijazi1, Muneera Alshammari3, Mohammed A Aldahmesh1, Mustafa A Salih3, Eissa Faqeih4, Amal Alhashem5, Fahad A Bashiri3, Mohammed Al-Owain6, Amal Y Kentab3, Sameera Sogaty7, Saeed Al Tala8, Mohamad-Hani Temsah3, Maha Tulbah9, Rasha F Aljelaify10, Saad A Alshahwan11, Mohammed Zain Seidahmed12, Adnan A Alhadid3, Hesham Aldhalaan13, Fatema AlQallaf13, Wesam Kurdi9, Majid Alfadhel14, Zainab Babay15, Mohammad Alsogheer16, Namik Kaya1, Zuhair N Al-Hassnan6, Ghada M H Abdel-Salam17, Nouriya Al-Sannaa18, Fuad Al Mutairi14, Heba Y El Khashab19, Saeed Bohlega13, Xiaofei Jia20, Henry C Nguyen20, Rakad Hammami1, Nouran Adly1, Jawahir Y Mohamed1, Firdous Abdulwahab1, Niema Ibrahim1, Ewa A Naim21, Banan Al-Younes21, Brian F Meyer21, Mais Hashem1, Ranad Shaheen1, Yong Xiong20, Mohamed Abouelhoda21, Abdulrahman A Aldeeri22, Dorota M Monies21, Fowzan S Alkuraya23.
Abstract
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to the identification of 69 recessive genes not previously associated with disease, of which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6, TBCK, FAM177A1, KIAA1109, MTSS1L, XIRP1, KCTD3, CHAF1B, ARV1, ISCA2, PTRH2, GEMIN4, MYOCD, PDPR, DPH1, NUP107, TMEM92, EPB41L4A, and FAM120AOS). We also encountered instances in which the phenotype departed significantly from the established clinical presentation of a known disease gene. Overall, a likely causal mutation was identified in >73% of our cases. This study contributes to the global effort toward a full compendium of disease genes affecting brain function.Entities:
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Year: 2014 PMID： 25558065 DOI： 10.1016/j.celrep.2014.12.015
Source DB: PubMed Journal: Cell Rep Impact factor: 9.423