AUTHOR=Dini Gianluca , Verrotti Alberto , Gorello Paolo , Soliani Luca , Cordelli Duccio Maria , Antona Vincenzo , Mencarelli Amedea , Colavito Davide , Prontera Paolo 

TITLE=NFIA haploinsufficiency: case series and literature review

JOURNAL=Frontiers in Pediatrics

VOLUME=11

YEAR=2023

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2023.1292654

DOI=10.3389/fped.2023.1292654

ISSN=2296-2360

ABSTRACT=<sec><title>Background</title><p><italic>NFIA</italic>-related disorder (OMIM #613735) is an autosomal dominant neurodevelopmental disorder characterized by a variable degree of cognitive impairment and non-specific dysmorphic features. To date, fewer than thirty patients affected by this disorder have been described.</p></sec><sec><title>Methods</title><p>Our study included three children with <italic>NFIA</italic> haploinsufficiency recruited from three medical genetics centers. Clinical presentations were recorded on a standardized case report form.</p></sec><sec><title>Results</title><p>All patients presented a variable degree of intellectual disability. None of the individuals in our cohort had urinary tract malformations. Three novel mutations, c.344G&gt;A, c.261T&gt;G, and c.887_888del are reported here.</p></sec><sec><title>Conclusion</title><p><italic>NFIA</italic> haploinsufficiency can be suspected through careful observation of specific dysmorphisms, including macrocephaly and craniofacial abnormalities. Instrumental tests such as MRI and renal ultrasound provide further diagnostic clues, while genetic testing can confirm the diagnosis.</p></sec>