Article
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain : a journal of neurology - 24 May 2022
Hiz Kurul Semra, Oktay Yavuz, Töpf Ana, Szabó Nóra Zs, Güngör Serdal, Yaramis Ahmet, Sonmezler Ece, Matalonga Leslie, Yis Uluc, Schon Katherine, Paramonov Ida, Kalafatcilar İpek Polat, Gao Fei, Rieger Aliz, Arslan Nur, Yilmaz Elmasnur, Ekinci Burcu, Edem Pinar Pulat, Aslan Mahmut, Özgör Bilge, Lochmüller Angela, Nair Ashwati, O'Heir Emily, Lovgren Alysia K, Maroofian Reza, Houlden Henry, Polavarapu Kiran, Roos Andreas, Müller Juliane S, Hathazi Denisa, Chinnery Patrick F, Laurie Steven, Beltran Sergi, Lochmüller Hanns, Horvath Rita
Abstract excerpt
Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A definitive molecular diagnosis could not be achieved in these children previously, as infrastructures and access to sophisticated diagnostic options were limited. We studied the...
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