Extending and outlining the genotypic and phenotypic spectrum of novel mutations of NALCN gene in IHPRF1 syndrome: identifying recurrent urinary tract infection.
Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.
9-year-old male with a homozygous nonsense mutation in NALCN (c.3910C>T p.Arg1304X) leading to profound intellectual disability seizures feeding difficulties and significant periodic breathing.
these are the first European cases with Infantile hypotonia with psychomotor retardation and characteristic facies-1 syndrome with biallelic truncating mutations of NALCN.
4 patients with intellectual disability small cerebellum and contractures with novel de novo predicted deleterious missense variants in NALCN are reported.
Study identified a de novo missense mutation in NALCN c.1768C>T in an infant with a severe neonatal lethal form of the recently characterized congenital contractures of the limbs and face with hypotonia and developmental delay. Clinical phenotype and electrophysiologic studies show sustained muscular contraction in response to transient sensory stimuli.
Ohmic leak currents were identified in freshly isolated and cultured myometrial smooth muscle cells. NALCN contributes to this current. Uterine biopsies from term non-laboring women revealed NALCN messenger RNA and protein expression in the myometrium.
We used exome and targeted next-generation sequencing to identify de novo mutations in NALCN as the cause of a newly delineated condition CLIFAHDD syndrome.
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