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

Simple item page
AuthorShokoufeh Ahmadipouren
AuthorGolnaz Mahmoudvanden
AuthorArshia Fakourien
AuthorSimin Farokhien
AuthorArian Karimi Rouzbahanien
OrcidShokoufeh Ahmadipour [0000-0001-7321-5609]en
OrcidGolnaz Mahmoudvand [0000-0001-5346-5088]en
OrcidArshia Fakouri [0000-0002-0929-8371]en
OrcidSimin Farokhi [0000-0002-7853-8834]en
OrcidArian Karimi Rouzbahani [0000-0002-0239-503X]en
Issued Date2023-04-30en
AbstractIntroduction: Sodium leak channel, non-selective (NALCN) is an ion channel with an important function in neuronal excitability. The activity of NALCN is essential in the balance of rhythmic behaviors. Infantile hypotonia with psychomotor retardation and characteristic facies 1 (IHPRF1), which occurs due to biallelic NALCN variants, leads to dysmorphic characteristics and global developmental delay. We hereby report 2 non-related patients with IHPRF1 syndrome. Case Presentation: The first case was a 1 - year-old girl referred to our center because of constipation and poor weight gain, and the other was a 2 - year-old girl presenting with hypotonia, constipation, and poor weight gain. Whole exome sequencing led to the detection of homozygote NALCN variants. Interestingly, in both cases, a novel variant of c.1434 + 1G>A in NACLN was identified, which, to the best of our knowledge, has not been reported as a pathogenic variant so far. Conclusions: NALCN dysfunctions lead to rare yet clinically significant disorders. Due to the potential mortality, further studies are essential for a more comprehensive understanding of these rare disorders.en
DOIhttps://doi.org/10.5812/ijp-134610en
KeywordNALCN Proteinen
KeywordIon Channelen
KeywordGenetic Disorderen
KeywordCase Reporten
PublisherBrieflandsen
TitleA Novel NALCN Homozygote Variant in Non-related Infants with IHPRF1 Syndrome: A Report of 2 Casesen
TypeCase Reporten

Files

Collections

Iranian Journal of Pediatrics