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Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.
J Med Case Rep
December 2024
Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.
Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.
View Article and Find Full Text PDFCuration of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.
Pigment Cell Melanoma Res
January 2025
Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Genetics and Birth Defects Control Center, National Center for Children's Health, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Article Synopsis
- - Oculocutaneous albinism type 2 (OCA-2) is linked to changes in the OCA2 gene, and this study aims to better classify uncertain gene variants using a method called multiplex assays of variant effect (MAVEs).
- - By analyzing variants from publicly available data, the research found that pathogenic variants behaved abnormally while benign ones worked normally, supporting a structured re-classification process for uncertain variants.
- - Out of 38 patients, the analysis provided a clearer diagnosis for 7 individuals, demonstrating the effectiveness of MAVEs for improving genetic testing and offering a valuable resource for future research and public clinical databases.
Chedíak-Higashi Syndrome: Hair-to-toe spectrum.
Semin Pediatr Neurol
December 2024
Human Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address:
Chedíak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder caused by mutations in the Lysosomal Trafficking Regulator (LYST) gene, leading to defective lysosomal function in immune cells, melanocytes, and neurons. Clinically, CHS is characterized by a spectrum of symptoms, including immunodeficiency, partial oculocutaneous albinism, bleeding tendencies, neurodevelopmental deficits and progressive neurodegenerative symptoms. The severity of CHS correlates with the type of LYST mutation: the classic form, linked to nonsense or frameshift mutations, presents early in childhood with severe immune dysfunction, recurrent infections, and a high risk of hemophagocytic lymphohistiocytosis (HLH), a life-threatening hyperinflammatory state.
View Article and Find Full Text PDFHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS - A PRESENTATION OF ACCELERATED PHASE OF CHEDIAK HIGASHI SYNDROME; CASE REPORT AND CLINICOPATHOLOGICAL REVIEW.
J Ayub Med Coll Abbottabad
November 2024
Department of Haematology, Indus Hospital and Health Network, Karachi, Pakistan.
Abstract: Chediak Higashi syndrome (CHS), a rare form of autosomal recessive disorder has been reported globally in less than 500 cases over the past two decades. It clinically manifests as repeated episodes of infection, haemorrhagic sequelae, partial albinism, photosensitivity and late neurological signs (neuropathy, cognitive impairment etc). The pathognomonic morphological finding is the presence of abnormally large intra-cytoplasmic granules, particularly in leucocytes.
View Article and Find Full Text PDFGriscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
J Clin Immunol
November 2024
Paediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles (RAB27A c.
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