A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

ABSTRACT: Nystagmus is a disorder of uncontrolled eye movement and can occur as an isolated trait (idiopathic INS, IINS) or as part of multisystem disorders such as albinism, significant visual disorders or neurological disease. Eighty-one unrelated patients with nystagmus underwent routine ocular phenotyping using commonly available phenotyping methods and were grouped into four sub-cohorts according to the level of phenotyping information gained and their findings. DNA was extracted and sequenced using a broad utility next generation sequencing (NGS) gene panel. A clinical subpanel of genes for nystagmus/albinism was utilised and likely causal variants were prioritised according to methods currently employed by clinical diagnostic laboratories. We determine the likely underlying genetic cause for

SUBMITTER: O'Gorman L 

PROVIDER: S-EPMC6744446 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature