Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant
Zhenyu Liao1, Yali Liu2, Yimin Wang3,4
1Neonatology Department of Hunan Children's Hospital, Changsha, China.
Insights
A novel NALCN gene variant was identified in a Chinese infant with congenital contractures, hypotonia, and developmental delay (CLIFAHDD syndrome). This finding expands the known spectrum of NALCN-related neurodevelopmental disorders.
Area of Science:
- Genetics
- Neuroscience
- Molecular Biology
Background:
- The NALCN gene encodes a sodium ion leak channel crucial for regulating nerve excitability.
- Variants in NALCN are linked to neurodevelopmental disorders: CLIFAHDD and IHPRF.
- CLIFAHDD (OMIM #616266) involves congenital contractures, hypotonia, and developmental delay.
- IHPRF (OMIM #615419) is characterized by infantile hypotonia and psychomotor retardation.
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.
