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Last update 08 May 2025

Donnai-Barrow Syndrome

Last update 08 May 2025

Basic Info

Synonyms

DBS-FOAR Syndrome, DBS/FOAR SYNDROME, DBS/FOAR syndrome

+ [27]

Introduction

A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

Clinical Trials associated with Donnai-Barrow Syndrome

NCT01676142

/ Unknown statusNot ApplicableIIT

Establishing a Diagnostic Test for Non-tuberculous Mycobacteria Lung Infection Using Non-tuberculous Mycobacteria Antigen Stimulation Test: From Immune Base, Standardized Setup to Validation

To compare TLR-2 expression of peripheral blood mononuclear cells and serum downstream cytokines in those with MAC or MAB pulmonary infection and those with MAC or MAB pulmonary colonization and controls.
To investigate the response of TLR-2 expression and cytokines activation to NTM stimulation test in patients with MAC or MAB pulmonary infection and colonization and controls.
To validate the NTM stimulation test for NTM pulmonary infection.

Start Date01 Jan 2011

Sponsor / Collaborator

National Taiwan University Hospital

NCT01509287

/ CompletedNot ApplicableIIT

Metabolic Screening in Patients With Donnai-Barrow Syndrome

This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).

Start Date01 Mar 2010

Sponsor / Collaborator

The General Hospital Corp.

100 Clinical Results associated with Donnai-Barrow Syndrome

100 Translational Medicine associated with Donnai-Barrow Syndrome

0 Patents (Medical) associated with Donnai-Barrow Syndrome

Literatures (Medical) associated with Donnai-Barrow Syndrome

25 Feb 2025·RETINAL Cases & Brief Reports

Bilateral giant retinal tear detachments in an infant with Donnai-Barrow syndrome: A case report and review of literature

Article

Author: Scoles, Drew ; Caplash, Sonny ; Huang, Alan Y.

Purpose:To report a rare case of bilateral giant retinal tear (GRT)-related retinal detachments in a 24-month-old male with Donnai-Barrow syndrome (DBS) and to review the current literature on this disorder.Methods:Clinical information was obtained from the medical records of a patient with Donnai-Barrow syndrome seen at the Children’s Hospital of Philadelphia. A literature review was conducted to identify all published cases of genetically or clinically diagnosed Donnai-Barrow syndrome.Results:We report a case of a 24-month-old male with a history of DBS presenting with sudden loss of vision in both eyes. Ophthalmic examination revealed bilateral retinal detachments with GRT, complicated by grade C proliferative vitreoretinopathy (PVR) in the right eye. The patient underwent sequential scleral buckling, pars plana vitrectomy, membrane peeling, perfluoron, endolaser, fluid air exchange, and silicone oil placement in both eyes. Both eyes developed re-detachment, requiring repeat pars plana vitrectomy. Literature review revealed 10 reported cases of retinal detachments out of 38 DBS patients who survived past 1 year (26.3%).Conclusion:This case highlights the early presentation and complexity of GRT-related retinal detachment in DBS patients. Early, aggressive management using prophylactic laser retinopexy or scleral buckling may be essential in improving visual outcomes in DBS patients.

01 Aug 2024·Zeitschrift für Geburtshilfe und Neonatologie

Bilateral Diaphragmatic Agenesis in Cornelia de Lange Syndrome

Article

Author: Reinshagen, Konrad ; Herrmann, Jochen ; de Sousa, Manuela Tavares ; Singer, Dominique ; Apostolidou, Sofia ; Peters, Usha ; Fritsch, Lena-Marie ; Deindl, Philipp

28 May 2024·Proceedings of the National Academy of Sciences

Cryo-EM structures elucidate the multiligand receptor nature of megalin

Article

Author: Kabasawa, Hideyuki ; Kikkawa, Masahide ; Tsumoto, Kouhei ; Nishizawa, Tomohiro ; Goto, Sawako ; Tsutsumi, Akihisa ; Lee, Yongchan ; Saito, Akihiko ; Takemoto, Kazuya ; Hosojima, Michihiro ; Nagatoishi, Satoru ; Komochi, Koichi

Megalin (low-density lipoprotein receptor-related protein 2) is a giant glycoprotein of about 600 kDa, mediating the endocytosis of more than 60 ligands, including those of proteins, peptides, and drug compounds [S. Goto, M. Hosojima, H. Kabasawa, A. Saito,Int. J. Biochem. Cell Biol.157, 106393 (2023)]. It is expressed predominantly in renal proximal tubule epithelial cells, as well as in the brain, lungs, eyes, inner ear, thyroid gland, and placenta. Megalin is also known to mediate the endocytosis of toxic compounds, particularly those that cause renal and hearing disorders [Y. Horiet al.,J. Am. Soc. Nephrol.28, 1783–1791 (2017)]. Genetic megalin deficiency causes Donnai–Barrow syndrome/facio-oculo-acoustico-renal syndrome in humans. However, it is not known how megalin interacts with such a wide variety of ligands and plays pathological roles in various organs. In this study, we elucidated the dimeric architecture of megalin, purified from rat kidneys, using cryoelectron microscopy. The maps revealed the densities of endogenous ligands bound to various regions throughout the dimer, elucidating the multiligand receptor nature of megalin. We also determined the structure of megalin in complex with receptor-associated protein, a molecular chaperone for megalin. The results will facilitate further studies on the pathophysiology of megalin-dependent multiligand endocytic pathways in multiple organs and will also be useful for the development of megalin-targeted drugs for renal and hearing disorders, Alzheimer’s disease [B. V. Zlokovicet al.,Proc. Natl. Acad. Sci. U.S.A.93, 4229–4234 (1996)], and other illnesses.

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Donnai-Barrow Syndrome

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