Two rare autosomal recessive neurological disorders identified by combined genetic approaches in a single consanguineous family with multiple offspring.
Seda SüsgünEmrah YucesanBeyza GoncuSevde Hasanoglu SayinUmit Yasar KinaCemil OzgulOmer Faruk DuzenliOzcan KocaturkMustafa CalikUgur OzbekSibel Aylin Ugur IseriPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
In conclusion, increased consanguinity may lead to the revealing of distinct rare neurogenetic diseases in a single family. Exome sequencing is generally considered the first-tier diagnostic test in individuals with NDD. Yet we underline the fact that customized approaches other than exome sequencing may be used as in the case of ULD to aid diagnosis and better genetic counseling.