AUTHOR=Liao Zhenyu , Liu Yali , Wang Yimin , Lu Qin , Peng Yu , Liu Qingsong 

TITLE=Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant

JOURNAL=Frontiers in Pediatrics

VOLUME=10

YEAR=2022

URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2022.927392

DOI=10.3389/fped.2022.927392

ISSN=2296-2360

ABSTRACT=<sec><title>Background</title><p>The <italic>NALCN</italic> encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability. <italic>NALCN</italic> variants are associated with two neurodevelopmental disorders, one is CLIFAHDD (autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental delay, OMIM #616266) and another is IHPRF (infantile hypotonia with psychomotor retardation, and characteristic facies 1, OMIM #615419).</p></sec><sec><title>Case Presentation</title><p>In the current study, a Chinese infant that manifested abnormal facial features, adducted thumbs, and neurodevelopmental retardation was diagnosed with CLIFAHDD syndrome. A trio-based whole-exome sequencing revealed that the infant harbored a <italic>de novo</italic> variant of the <italic>NALCN</italic> gene (c.4300A&gt;G, p.I1434V).</p></sec><sec><title>Conclusions</title><p>Our findings further enriched the variant spectrum of the <italic>NALCN</italic> gene and may expand the clinical range of <italic>NALCN</italic>-related disorders.</p></sec>