Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been described as an autosomal-dominant disorder caused by mutations in the NR2F1 gene, whose common characteristics include developmental delay, intellectual disability, optic nerve atrophy, hypotonia, attention deficit disorder, autism spectrum disorder, seizures, hearing defects, spasticity and thinning of the corpus callosum. Missense mutations in NR2F1 have been reported to be the major cause of BBSOAS. A possible genotype-phenotype correlation has been considered with missense mutations affecting the ligand-binding domain of NR2F1 as well as whole-gene deletions of NR2F1 showing a milder phenotype of BBSOAS. Here we report on a patient with a novel frameshift mutation in NR2F1 showing the full spectrum of BBOAS indicating an expanded clinical spectrum and a reconsideration of the observed genotype-phenotype correlation.

Bosch-Boonstra-Schaaf视神经萎缩综合征（BBSOAS）被描述为由NR2F1基因突变引起的常染色体显性遗传疾病，其常见特征包括发育迟缓，智力障碍，视神经萎缩，肌张力低下，注意力缺陷障碍，自闭症谱系疾病，癫痫发作，听力障碍，痉挛和call体变薄。据报道，NR2F1的错义突变是BBSOAS的主要原因。一种可能的基因型-表型的相关性已经被认为与影响NR2F1的配体结合结构域以及对全基因缺失错义突变NR2F1表示BBSOAS的较温和的表型。在这里，我们报道了一名患有NR2F1新型移码突变的患者 显示BBOAS的全谱图，表明临床谱图已扩大，并重新考虑了观察到的基因型与表型的相关性。