GAPO syndrome is a rare autosomal recessive disorder whose main manifestations are: growth retardation, alopecia, pseudoanodontia and optic atrophy. We report here the ophthalmological findings in a 12-year-old Tunisian boy suffering from typical GAPO syndrome.
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Novel Otolaryngological and Radiological Manifestations in GAPO Syndrome.
Ear Nose Throat J
December 2024
Department of Otorhinolaryngology, Al Mouwasat University Hospital, Damascus University, Damascus, Syria.
GAPO syndrome is an exceptionally-rare autosomal recessive disorder characterized by growth retardation, alopecia, pseudoanodontia, and optic abnormalities, with fewer than 60 cases reported globally. We present the first documented case in Syria, highlighting novel otolaryngological and radiological findings that expand the clinical spectrum of this syndrome. A 27-year-old male presented with chronic right-sided otalgia, unilateral conductive hearing loss, and persistent sinonasal symptoms.
View Article and Find Full Text PDFAbnormal dental phenotypes in GAPO syndrome: A descriptive study with a new variant & insights on teeth eruption.
Saudi Dent J
September 2024
Oro-dental Genetics Department, Egypt.
Objective: GAPO syndrome is usually diagnosed clinically owing to its characteristic features of growth retardation, alopecia, pseudoanodontia, and ophthalmic anomalies. Pseudoanodontia describes the failure of eruption of the two sets of teeth in these patients. Thus, the abnormal dental phenotype is the emergence of a set or part of a set of dentitions.
View Article and Find Full Text PDFGAPO syndrome: a novel variant in ANTXR1 gene.
Ophthalmic Genet
August 2024
VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, India.
Background: GAPO syndrome is a rare autosomal recessive disorder characterized by the acronym of growth retardation, alopecia, pseudo-anodontia and progressive optic atrophy. While the genetic alteration of the gene has been known for its cause, the full range of its clinical and genetic manifestations is not well explored due to the syndrome's extreme rarity.
Materials/methods: We report two children born to a non-consanguineous parent in India with classical features of GAPO syndrome.
ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.
Sci Rep
April 2024
Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.
ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1's physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy.
View Article and Find Full Text PDFDistribution of variants in patients with early onset glaucoma.
Mol Vis
April 2024
Department of Biophysics, All India Institute of Medical Sciences, New Delhi.
Article Synopsis
- - The study investigates a new genetic link between certain variants and congenital glaucoma within a family affected by GAPO syndrome, along with other unrelated cases of juvenile open-angle glaucoma (JOAG) and primary congenital glaucoma (PCG).
- - Researchers identified three girls with GAPO syndrome from a consanguineous family, two of whom had congenital glaucoma, and discovered a unique mutation in all affected siblings, indicating a potential common genetic factor.
- - Additional findings revealed rare variants shared among other patients with JOAG and PCG, suggesting the need for further research to understand how these genetic variations may contribute to the development of these glaucomas.
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