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http://dx.doi.org/10.1136/thorax-2024-222333 | DOI Listing |
Am J Hum Genet
September 2025
Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, Rotterdam 3000 CA, the Netherlands.
Microtubule-actin cross-linking factor 1 (MACF1) is a large protein of the spectraplakin family, which is essential for brain development. MACF1 interacts with microtubules through the growth arrest-specific 2 (Gas2)-related (GAR) domain. Heterozygous MACF1 missense variants affecting the zinc-binding residues in this domain result in a distinctive cortical and brain stem malformation.
View Article and Find Full Text PDFIntroduction: Congenital Hypogonadotropic Hypogonadism (CHH) arises from defects in the synthesis, secretion, or action of gonadotropin-releasing hormone (GnRH), resulting in incomplete or absent pubertal development and various non-reproductive features. CHH is genetically heterogeneous, with over 50 genes implicated in its pathogenesis. This study aimed to elucidate the genetic variants of CHH in a cohort of patients from a single-center endocrinology unit.
View Article and Find Full Text PDFFront Endocrinol (Lausanne)
September 2025
Division of Pediatric Endocrinology and Diabetes, Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Introduction: Triple A syndrome (OMIM*231550) is a rare autosomal recessive disorder characterized by achalasia, alacrima, adrenal insufficiency, and neurological features. It is caused by functional impairment of the nucleoporin ALADIN due to mutations in the gene. Limited data exists on triple A syndrome from Sub-Saharan African and Arab countries.
View Article and Find Full Text PDFJ Hum Genet
September 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
GNE myopathy is an autosomal recessive distal myopathy resulting from biallelic pathogenic variants in the GNE gene, a key enzyme in sialic acid biosynthesis. Although most pathogenic variants are missense variants, recent advances have enabled the identification of copy number variations, deep intronic variants, and regulatory changes in the promoter region, significantly enhancing diagnostic accuracy. Progress in genetic diagnostics now allows detection of rare and complex variants.
View Article and Find Full Text PDFExp Gerontol
September 2025
Grupo de Investigación en Neurosciencias y Muerte Celular, Instituto de Genética, Universidad Nacional de Colombia, Bogotá, Colombia; Departamento de Pediatría, Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
Wiedemann-Rautenstrauch syndrome (WRS) is a rare neonatal progeroid disorder primarily associated with pathogenic variants in POLR3A. However, the pathogenicity of certain variants remains unclear. Here, we report a WRS case carrying the POLR3A c.
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