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

BACKGROUND: The NALCN encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability. NALCN variants are associated with two neurodevelopmental disorders, one is CLIFAHDD (autosomal dominant congenital contractures of the limbs and face, hypotonia, and developmental dela...

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Detalles Bibliográficos
Autores principales: Liao, Zhenyu, Liu, Yali, Wang, Yimin, Lu, Qin, Peng, Yu, Liu, Qingsong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326163/
https://www.ncbi.nlm.nih.gov/pubmed/35911839
http://dx.doi.org/10.3389/fped.2022.927392
Descripción
Sumario:BACKGROUND: The NALCN encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability. NALCN 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). CASE PRESENTATION: 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 de novo variant of the NALCN gene (c.4300A>G, p.I1434V). CONCLUSIONS: Our findings further enriched the variant spectrum of the NALCN gene and may expand the clinical range of NALCN-related disorders.