Center for Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium.
Department of Physical Medicine and Orthopaedic Surgery, Ghent University, Ghent, Belgium.
Eur J Med Genet. 2020 Nov;63(11):104009. doi: 10.1016/j.ejmg.2020.104009. Epub 2020 Aug 3.
Interstitial 19q13.11 deletions are associated with ectrodactyly, which has recently been linked to loss-of-function of the UBA2 gene. We report a boy with a de novo frameshift mutation in UBA2 (c.612delA (p.(Glu205Lysfs*63)), presenting with ectrodactyly of the feet associated with learning difficulties and minor physical anomalies. We review genotype-phenotype correlations in patients with chromosomal 19q13.11 microdeletions compared to those with intragenic UBA2 mutations.
19q13.11 号染色体的染色质间缺失与并指（趾）畸形有关，该病症最近与 UBA2 基因的功能丧失相关。我们报道了一名男孩，他的 UBA2 基因上存在一个新的移码突变（c.612delA (p.(Glu205Lysfs*63))），表现为并指（趾）畸形，伴有学习困难和轻微的身体异常。我们回顾了与 19q13.11 号染色体微缺失患者相比，UBA2 基因突变患者的基因型-表型相关性。
