Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://dx.doi.org/10.1136/thorax-2024-222333DOI Listing

Publication Analysis

Top Keywords

complexity genotype-phenotype
4
genotype-phenotype relationships
4
relationships primary
4
primary ciliary
4
ciliary dyskinesia
4
dyskinesia gene
4
gene modifier
4
complexity
1
relationships
1
primary
1

Similar Publications

A clinical and genotype-phenotype analysis of MACF1 variants.

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 PDF

Introduction: 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 PDF

Insights into genetic and clinical profiles of triple A syndrome in Sudanese children.

Front 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 PDF

Molecular genetics and therapeutic development for GNE myopathy.

J 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 PDF

Clinical and molecular insights into Wiedemann-Rautenstrauch syndrome: A case report and genetic analysis of the c.2707G>A variant in the POLR3A gene.

Exp 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.

View Article and Find Full Text PDF