European Journal of Medical Genetics ( IF 1.9 ) Pub Date : 2020-10-28 , DOI: 10.1016/j.ejmg.2020.104092 Anupam Canchi Arun Rao , Himanshu Goel
The Nuclear Factor I (NFI) transcription family (NFIA, NFIB and NFIX) have been implicated in a range of developmental pathologies, including corpus callosum, craniofacial, urinary tract abnormalities, as well in the development of a number of neurodevelopmental developmental phenotypes including muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioural abnormalities. NFIB haploinsufficiency has only recently been presented as a cause for macrocephaly-intellectual disability syndrome, with comparable phenotypes to NFIA related disorder. We add another patient with a previously reported nonsense variant in the NFIB who has Autism Spectrum Disorder level 2, agenesis of the corpus callosum, ADHD, obsessive compulsive Disorder and an intellectual disability. A clinical exome analysis identified a nonsense variant, c.265C > T, p.(Arg89*) involving exon 2 of NFIB (ClinVar variation ID: 424,344). A brain MRI demonstrated agenesis of the corpus callosum.
中文翻译:
NFIB的致病性无意义变体,另一位患有畸形,自闭症谱系障碍,call体发育不全和智力障碍的患者
核因子I(NFI)转录家族(NFIA,NFIB和NFIX)已涉及多种发育病理,包括体,颅面,泌尿道异常,以及包括肌肉发达在内的许多神经发育发育表型的发育。肌张力减退,运动和言语延迟,注意力缺陷障碍,自闭症谱系障碍和行为异常。NFIB单倍体功能不全直到最近才被认为是导致大头型智力障碍综合征的原因,其表型与NFIA相关疾病相当。我们在NFIB中添加了另一位先前报道过无意义变异的患者他患有2级自闭症谱系障碍,call体发育不全,ADHD,强迫症和智力障碍。临床外显子组分析鉴定出涉及NFIB外显子2的无意义变体,c.265C> T,p。(Arg89 *)(ClinVar变异ID:424,344)。脑部MRI证实call体发育不全。