Article
From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.
Annals of human genetics - 1 May 2012
Alsaadi Muslim M, Gaunt Tom R, Boustred Christopher R, Guthrie Philip A I, Liu Xuan, Lenzi Luca, Rainbow Lucille, Hall Neil, Alharbi Khalid K, Day Ian N M
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a genetic disorder, usually autosomal recessive, causing early respiratory disease and later subfertility. Whole exome sequencing may enable efficient analysis for locus heterogeneous disorders such as PCD. We whole-exome-sequenced one consanguineous Saudi Arabian with clinically diagnosed PCD and normal laterality, to attempt ab initio molecular diagnosis. We reviewed 13 known...
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