Hemizygous contiguous gene deletion within Xq28 that includes BCAP31, ABCD1, SRPK3 and SSR4: case report and literature review

We report on a rare 110 kilobase contiguous gene deletion within chromosome region Xq28, encompassing 7 annotated Online Mendelian Inheritance in Man (OMIM) genes and extending from BCAP31 to the telomeric-located PDZD4. We review 13 other reported contiguous deletions in this region and analyze their clinical phenotypes. The novel findings in our case were orofacial clefting and a vascular ring. The major clinical anomalies in our case appear to be due to the combined effects of BCAP31, SRPK3 and SSR4 deletions. This combination produces a severe neonatal disorder whose features further refine our knowledge about deletions within Xq28. Additionally, the observation of multiple nonrecurring breakpoints among the published cases suggests that the deletions occur by random chromosome breakage.