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Keywords = CLIFAHDD syndrome

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7 pages, 1052 KB  
Brief Report
A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment
by Rute Luísa Cabrita Pinto, Roberto Fancellu, Tiziana Benzi Markushi, Silvia Viaggi, Barbara Testa, Giuseppina Conteduca, Lane Fitzsimmons, Domenico Coviello and Angela Elvira Covone
Genes 2025, 16(10), 1181; https://doi.org/10.3390/genes16101181 - 11 Oct 2025
Viewed by 1449
Abstract
Background/Objectives: CLIFAHDD syndrome (OMIM # 616266) is a rare neurodevelopmental disorder caused by mutations in the NALCN gene. It is characterized by hypotonia, developmental delay, and congenital contractures of the limbs and face. We report a 33-year-old Italian woman with a mild form [...] Read more.
Background/Objectives: CLIFAHDD syndrome (OMIM # 616266) is a rare neurodevelopmental disorder caused by mutations in the NALCN gene. It is characterized by hypotonia, developmental delay, and congenital contractures of the limbs and face. We report a 33-year-old Italian woman with a mild form of CLIFAHDD who exhibited early-onset language difficulties and mild intellectual disability and later developed gait and balance impairments in adulthood. Methods and Results: Whole Exome Sequencing (WES) identified a novel missense variant c.1514A>T; p.(Lys505Met) in the NALCN gene. The allele frequency of this variant is not detected (MAF = 0.0), the variant is classified as likely pathogenic according to ACMG criteria, and predicted to be probably damaging by PolyPhen-2. It affects a critical residue within the second pore-forming domain of the NALCN channel, potentially altering lipid interactions and channel regulation. Sanger sequencing and segregation analysis confirmed the variant to be heterozygous and de novo. Conclusions: The patient’s milder symptoms and later onset, compared to severe pediatric cases, suggest that the clinical spectrum of CLIFAHDD syndrome may be broader than previously recognized. These findings underscore the potential influence of mutation location on disease presentation and severity. Full article
(This article belongs to the Section Genetic Diagnosis)
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8 pages, 814 KB  
Case Report
Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine
by Anna Winczewska-Wiktor, Adam Sebastian Hirschfeld, Magdalena Badura-Stronka, Irena Wojsyk-Banaszak, Paulina Sobkowiak, Alicja Bartkowska-Śniatkowska, Valeriia Babak and Barbara Steinborn
Int. J. Environ. Res. Public Health 2022, 19(2), 775; https://doi.org/10.3390/ijerph19020775 - 11 Jan 2022
Cited by 7 | Viewed by 7132
Abstract
NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital [...] Read more.
NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital myasthenic syndrome (CMS) was suspected due to the occurrence of hypotonia and apnea episodes requiring resuscitation. For this reason, treatment with pyridostigmine was introduced. After starting the treatment, a significant improvement was observed in reducing the apnea episodes and slight psychomotor progress. In the course of further diagnostics, CMS was excluded, and CLIFAHDD syndrome was confirmed. Thus, we try to explain a possible mechanism of clinical improvement after the introduction of treatment with pyridostigmine in a patient with a mutation in the NALCN gene. Full article
(This article belongs to the Special Issue Different Views on a Child's Motor Development and Motor Performance)
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