Abstract：
The NFIA (nuclear factor I/A) gene encodes for a transcription factor belonging to the nuclear factor I family and has key roles in various embryonic differentiation pathways. In humans, NFIA is the major contributor to the phenotypic traits of \"Chromosome 1p32p31 deletion syndrome\". We report on two new cases with deletions involving NFIA without any other pathogenic protein-coding gene alterations. A cohort of 24 patients with NFIA haploinsufficiency as the sole anomaly was selected by reviewing the literature and public databases in order to analyze all clinical features reported and their relative frequencies. This process was useful because it provided an overall picture of the phenotypic outcome of NFIA haploinsufficiency and helped to define a cluster of phenotypic traits that can facilitate clinicians in identifying affected patients. NFIA haploinsufficiency can be suspected by a careful observation of the dysmorphisms (macrocephaly, craniofacial, and first-finger anomalies), and this potential diagnosis is strengthened by the presence of intellectual and developmental disabilities or other neurodevelopmental disorders. Further clues of NFIA haploinsufficiency can be provided by instrumental tests such as MRI and kidney urinary tract ultrasound and confirmed by genetic testing.
摘要：
NFIA（核因子I/A）基因编码属于核因子I家族的转录因子，并在各种胚胎分化途径中起关键作用。在人类中,NFIA是“染色体1p32p31缺失综合征”表型特征的主要贡献者。我们报告了两个新病例，其中涉及NFIA缺失，没有任何其他致病蛋白编码基因改变。通过查阅文献和公共数据库，选择了24例NFIA单倍体功能不全为唯一异常的患者，以分析所有报告的临床特征及其相对频率。这个过程是有用的，因为它提供了NFIA单倍体功能不全的表型结果的总体情况，并有助于定义一组表型特征，可以帮助临床医生识别受影响的患者。NFIA单倍功能不全可以通过仔细观察畸形（大头畸形，颅面,和第一指异常)，智力和发育障碍或其他神经发育障碍的存在加强了这种潜在的诊断。NFIA单倍体功能不全的进一步线索可以通过MRI和肾尿路超声等仪器测试提供，并通过基因测试确认。
