Lien Joan Chern-Hui, Chandrasekaran Vinay D, Narumanchi Tarachandra M, Napoli Melissa S, Peterson Jo Elle G, Williams Charles A
Section of Neonatal-Perinatal Medicine, University of Oklahoma College of Medicine, Oklahoma City, OK, USA.
Genetics Specialty Clinic, Children's Hospital, Oklahoma University Health Science Center, Oklahoma City, OK, USA.
Glob Med Genet. 2025 Jun 21;12(3):100066. doi: 10.1016/j.gmg.2025.100066. eCollection 2025 Sep.
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.
我们报告了1例罕见的染色体Xq28区域110千碱基的连续基因缺失，该缺失包含7个注释的《人类孟德尔遗传在线》（OMIM）基因，范围从BCAP31延伸至端粒定位的PDZD4。我们回顾了该区域其他13例报告的连续缺失病例，并分析了它们的临床表型。我们病例中的新发现是口面部裂和血管环。我们病例中的主要临床异常似乎是由于BCAP31、SRPK3和SSR4缺失的综合作用。这种组合导致了一种严重的新生儿疾病，其特征进一步完善了我们对Xq28区域缺失的认识。此外，已发表病例中多个非重复断点的观察结果表明，这些缺失是由随机染色体断裂引起的。
