Key Clinical Message: Congenital Contractures of Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) syndrome is a recently described type of distal arthrogryposis which unlike other subtypes is associated with developmental delay and various neurologic presentation. Epilepsy and ataxia have been reported. We add paroxysmal dyskinesia to the clinical spectrum. Understanding the molecular mechanism can help developing targeted therapy in future.
Abstract: This study resulted in identification of a novel variant in gene leading to autosomal dominant CLIFAHDD syndrome. Our patient presented with a form of nonepileptic paroxysmal dyskinesia. This is a new phenotype that has not been described previously.
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Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCN structural analysis.
Front Genet
December 2024
Bioinformatics Unit, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Italy.
Introduction: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in gene (MIM#611549) resulting in a loss-of-function effect.
Methods: We enrolled a new IHPRF1 patients' cohort in the framework of an international multicentric collaboration study. Using specialized pathogenicity predictors and structural analyses, we assessed the mechanistic consequences of the deleterious variants retrieved on NALCN structure and function.
Case Report: New presentation of CLIFAHDD syndrome with a novel variant in the NALCN gene and a literature review.
Front Pediatr
May 2024
Department of Rehabilitation Medicine, Shenzhen Children's Hospital, Shenzhen, China.
Background: Congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD) syndrome (OMIM #616266) is an autosomal dominant hereditary disease that can lead to the congenital contracture of the limbs and face, hypotonia, and developmental delay. In addition, it may result in growth retardation and present various clinical symptoms, such as brain atrophy, a small pituitary gland, musculoskeletal abnormalities, abnormal breathing, abdominal hernia, and abnormal facial features. Herein, we describe a novel missense genetic variant in the sodium leak channel, non-selective (NALCN) gene that is associated with CLIFAHDD syndrome.
View Article and Find Full Text PDFNew presentation of CLIFAHDD syndrome with a novel variant in gene: A report of a rare case.
Clin Case Rep
July 2023
Department of Pathology and Laboratory Medicine, Genomics Laboratory University of Saskatchewan Saskatoon Saskatchewan Canada.
Key Clinical Message: Congenital Contractures of Limbs and Face, Hypotonia, and Developmental Delay (CLIFAHDD) syndrome is a recently described type of distal arthrogryposis which unlike other subtypes is associated with developmental delay and various neurologic presentation. Epilepsy and ataxia have been reported. We add paroxysmal dyskinesia to the clinical spectrum.
View Article and Find Full Text PDFNovel NALCN variant linked to temporal lobe epilepsy.
Am J Med Genet A
July 2023
Neuroscience Division, Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montreal, Quebec, Canada.
The sodium leak channel (NALCN) gene encodes a sodium leak channel that plays an important role in the regulation of the resting membrane potential and the control of neuronal excitability. Mutations in the NALCN gene have been reported in patients with infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD syndrome). We describe the case of a father with drug-resistant left temporo-orbitofrontal epilepsy and his son with mildly-symptomatic temporal epilepsy (only recurrent déjà vu auras) whose genetic panels identified a likely pathogenic deletion of exon 27 on the NALCN gene.
View Article and Find Full Text PDFCase Report: A Variant in Associated With CLIFAHDD Syndrome in a Chinese Infant.
Front Pediatr
July 2022
Department of Cardiothoracic Surgery, Hunan Children's Hospital, Changsha, China.
Background: The encodes a sodium ion leak channel that regulates nerve-resting conductance and excitability. 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.
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