Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
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DOI：
10.1016/j.ejmg.2020.104009
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发表时间：
2020-11-01
影响因子：
1.9
通讯作者：
Devriendt, Koenraad
中科院分区：
文献类型：
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作者：
Aerden, Mio;Bauters, Marijke;Devriendt, Koenraad
间质 19q13.11 缺失与外指畸形有关，最近发现外指畸形与 UBA2 基因功能丧失有关。我们报告了一名患有 UBA2 新生移码突变的男孩 (c.612delA (p.(Glu205Lysfs*63))，表现为与学习困难和轻微身体异常相关的足部外指畸形。我们回顾了染色体 19q13.11 微缺失患者与基因内 UBA2 突变患者的基因型-表型相关性。
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.