Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT, 06520-8082, USA.
Department of Pediatrics, Division of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
J Hum Genet. 2022 Sep;67(9):553-556. doi: 10.1038/s10038-022-01032-1. Epub 2022 Mar 25.
Heterozygous mutations in Bicaudal D2 Drosophila homolog 2 (BICD2) gene, encodes a vesicle transport protein involved in dynein-mediated movement along microtubules, are responsible for an exceedingly rare autosomal dominant spinal muscular atrophy type 2A which starts in the childhood and predominantly effects lower extremities. Recently, a more severe form, type 2B, has also been described. Here, we present a patient born to a consanguineous union and who suffered from intellectual disability, speech delay, epilepsy, happy facial expression, truncal obesity with tappering fingers, and joint hypermobility. Whole-exome sequencing analysis revealed a rare, homozygous missense mutation (c.731T>C; p.Leu244Pro) in BICD2 gene. This finding presents the first report in the literature for homozygous BICD2 mutations and its association with a Cohen-Like syndrome. Patients presenting with Cohen-Like phenotypes should be further interrogated for mutations in BICD2.
Bicaudal D2 果蝇同源物 2（BICD2）基因的杂合突变，编码一种参与沿微管的动力蛋白介导运动的囊泡转运蛋白，是负责一种极其罕见的常染色体显性遗传的 2A 型脊髓性肌萎缩症的原因，这种疾病始于儿童期，主要影响下肢。最近，也描述了一种更严重的形式，即 2B 型。在这里，我们介绍了一位出生于近亲结婚的患者，他患有智力障碍、言语延迟、癫痫、表情愉快、躯干肥胖伴手指变细、关节活动过度。全外显子组测序分析显示 BICD2 基因中存在一种罕见的纯合错义突变（c.731T>C；p.Leu244Pro）。这一发现首次在文献中报道了 BICD2 基因的纯合突变及其与 Cohen 样综合征的关联。具有 Cohen 样表型的患者应进一步检查 BICD2 基因突变。
