A Novel NALCN Homozygote Variant in Non-related Infants with IHPRF1 Syndrome: A Report of 2 Cases

Introduction: Sodium leak channel, non-selective (NALCN) is an ion channel with important function in neuronal excitability. The activity of NALCN essential the balance rhythmic behaviors. Infantile hypotonia psychomotor retardation and characteristic facies 1 (IHPRF1), which occurs due to biallelic variants, leads dysmorphic characteristics global developmental delay. We hereby report 2 non-related patients IHPRF1 syndrome. Case Presentation: first case was a - year-old girl referred our center because constipation poor weight gain, other presenting hypotonia, constipation, gain. Whole exome sequencing led detection homozygote variants. Interestingly, both cases, novel variant c.1434 + 1G>A NACLN identified, which, best knowledge, has not been reported as pathogenic so far. Conclusions: dysfunctions lead rare yet clinically significant disorders. Due potential mortality, further studies are for more comprehensive understanding these