Cytogenetic Unit, Department of Laboratory Medicine, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy.
Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero-Univeristaria Pisana, Via Roma 57, 56100 Pisa, Italy.
Genes (Basel). 2022 Nov 30;13(12):2249. doi: 10.3390/genes13122249.
The (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, is the major contributor to the phenotypic traits of "Chromosome 1p32p31 deletion syndrome". We report on two new cases with deletions involving without any other pathogenic protein-coding gene alterations. A cohort of 24 patients with 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 haploinsufficiency and helped to define a cluster of phenotypic traits that can facilitate clinicians in identifying affected patients. 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 haploinsufficiency can be provided by instrumental tests such as MRI and kidney urinary tract ultrasound and confirmed by genetic testing.
（核因子 I/A）基因编码一种转录因子，属于核因子 I 家族，在各种胚胎分化途径中起着关键作用。在人类中，是“1p32p31 号染色体缺失综合征”表型特征的主要贡献者。我们报告了两个新的病例，这些病例的缺失涉及到而没有任何其他致病性蛋白编码基因突变。通过回顾文献和公共数据库，选择了 24 名杂合子缺失患者作为队列，以分析所有报告的临床特征及其相对频率。这个过程很有用，因为它提供了 杂合子缺失表型结果的全貌，并有助于确定一组表型特征，从而有助于临床医生识别受影响的患者。通过仔细观察畸形（大头畸形、颅面和第一指异常），可以怀疑 杂合子缺失，而存在智力和发育障碍或其他神经发育障碍则加强了这一潜在诊断。磁共振成像（MRI）和肾脏尿路超声等仪器检查可以提供 杂合子缺失的进一步线索，基因检测可以确认这一点。
