Background: Chorea-acanthocytosis (ChAc) is a rare hereditary autosomal recessive neurodegenerative disorder caused by pathogenic variants of the Vacuolar Protein Sorting 13 homolog A (VPS13A) gene. The variant spectrum of VPS13A has not been completely elucidated. This study reports two novel heterozygous VPS13A pathogenic variants in ChAc that expand the variant spectrum of VPS13A.
Case Presentation: We described a case of a 29-year-old man with typical clinical manifestations of ChAc, including chorea, orofacial lingual dyskinesia, vocal tics, elevated serum biochemical indicators, increased acanthocytes in peripheral blood, and caudate nucleus atrophy. Next-generation sequencing revealed two heterozygous variants of VPS13A: a nonsense variant (NM_033305.2: c.8215G > T, p. Glu2739Ter) and a deletion variant in the exons 25-31.
Conclusion: The identified nonsense variant gives rise to premature translation termination, while the deletion variant is expected to cause a significant in-frame deletion of amino acid residues in the encoded protein. Both variants are considered to be pathogenic and result in loss-of-function proteins. These findings have implications for the genetic counseling of patients with VPS13A variants.
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http://dx.doi.org/10.1186/s12883-023-03398-x | DOI Listing |
BMC Oral Health
December 2024
School of Stomatology, Capital Medical University, Beijing, 100050, China.
Objective: This prospective clinical study examined the effects of fixed orthodontic appliances on oral hygiene and assessed changes in the oral microflora structure of orthodontic patients using high-throughput sequencing technology.
Methods: A total of 45 patients undergoing initial fixed orthodontic treatment were recruited from three hospitals in Beijing, China. Clinical parameters and oral hygiene habits questionnaire were recorded at pre-treatment (T0) and at a 6-month follow-up (T1).
Int J Antimicrob Agents
December 2024
Department of Clinical Laboratory Medicine, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, China. Electronic address:
Eur J Med Genet
December 2024
CHU Lille, Institut de Génétique Médicale, F-59000 Lille, France; Univ. Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, F-59000 Lille, France. Electronic address:
The X-linked NONO gene encodes Non-Pou Domain-Containing Octamer-Binding Protein, a multifunctional member of the DBHS family involved in transcriptional regulation, RNA splicing and DNA repair. Pathogenic variants in NONO cause Intellectual Developmental Disorder, X-linked Syndromic (MIM #300967), characterised by intellectual disability, neurodevelopmental delay, cardiomyopathy, such as left ventricular non-compaction (LVNC), and congenital heart defects such as including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), and patent foramen ovale (PFO). This study reports three new patients with pathogenic hemizygous frameshift variants in NONO identified with exome sequencing, broadening the clinical presentation.
View Article and Find Full Text PDFEur J Med Genet
December 2024
Rare Diseases and Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCSS, Rome, Italy.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.
View Article and Find Full Text PDFEur J Med Genet
December 2024
Department of Clinical Genetics, Our Lady's Children's Hospital, Children's' Health Ireland, Dublin, Republic of Ireland; Academic Centre on Rare Diseases, University College Dublin, Dublin, Republic of Ireland; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street Dublin, Republic of Ireland. Electronic address:
Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10 Century throughout the Byzantine period and continues to the present day. Approximately 10-12 million Romani people reside in segregated settlements in Europe, and smaller populations live in North America and China. In addition to the endogamy, they also practice consanguinity.
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