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Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).
Genet Mol Biol
January 2025
King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), College of Medicine, Riyadh, Saudi Arabia.
Sperm-associated antigen 9 (SPAG9) is a member of cancer-testis antigen, having characteristics of a scaffold protein, which is involved in the c-Jun N-terminal kinase JNK signaling pathway, suggesting its key involvement in different physiological processes, such as survival, apoptosis, tumorigenesis, and cell proliferation. We identified two families (A and B) having multisystem features like coarse facial features, albinism, cataracts, skeletal abnormalities, and developmental delay. Whole genome sequencing (WGS) in families A and B revealed a homozygous frameshift variant (c.
View Article and Find Full Text PDFRole of Morphology in the Diagnosis of an Unsuspected Case of Chediak-Higashi Syndrome: A Case Report.
Cureus
December 2024
Department of Pathology, Ranga Raya Medical College, Kakinada, IND.
Chediak-Higashi syndrome (CHS) is a rare multisystem genetic disorder of childhood, caused by a defect in vesicular trafficking, which is an essential process for intracellular transport. This defect results in the formation of giant cytoplasmic granules in various cell types, including white blood cells, melanosomes, and Schwann cells. The presence of giant lysosomal granules in neutrophils and their precursors is a distinct and diagnostic feature of CHS, differentiating it from other childhood immunodeficiency disorders, such as Griscelli syndrome and Hermansky-Pudlak syndrome, which share common characteristics like albinism and increased susceptibility to fatal hemophagocytic lymphohistiocytosis.
View Article and Find Full Text PDFNystagmus in infancy: causes, characteristics and main tools for diagnosis.
Eye (Lond)
December 2024
Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Background: Nystagmus in infancy may occur as part of an ocular condition, a neurological disorder or be idiopathic. The objective of our study was to evaluate the main causes for nystagmus in infants aged 0-1 year, the accompanying clinical characteristics and the effectiveness of different diagnostic tests used for reaching definite diagnosis.
Methods: A retrospective study was conducted on medical records of infants who were seen at a tertiary hospital between 2016 and 2021.
CsCBF2 contributes to cold repression of chlorophyll and carotenoid biosynthesis in albino Camellia sinensis cv. Baiye 1.
Tree Physiol
December 2024
Anhui Agricultural Universtiy, No. 130 of Changjiang West Road, Hefei, 230036, Anhui, China.
C-repeat binding factors (CsCBFs) play a pivotal role in regulating cold response in higher plants. Camellia sinensis cv. Baiye 1, a representative albino tea cultivar, has been identified as temperature-sensitive based on long-term observations by tea farmers.
View Article and Find Full Text PDFEarly diagnosis of immunodeficient patients with partial albinism: The role of hair study and peripheral blood smear.
Pediatr Allergy Immunol
November 2024
Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Article Synopsis
- Primary immunodeficiency diseases with partial albinism, such as Chediak Higashi Syndrome (CHS) and Griscelli Syndrome type 2 (GS2), are autosomal recessive disorders characterized by immune deficiencies and abnormal pigmentation.
- The study evaluated 25 patients over the past decade, using genetic analyses and examinations of leukocyte granules and hair shafts to identify these conditions, along with control groups of patients with albinism and healthy individuals.
- The findings indicated specific genetic variants associated with CHS and HPS2, highlighting the importance of timely hematopoietic stem cell transplantation and genetic testing for accurate diagnosis and management of these syndromes.
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