Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.

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 clus

SUBMITTER: Bertini V 

PROVIDER: S-EPMC9777632 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature