A novel mutation in the aspartate beta-hydroxylase (ASPH) gene is associated with a rare form of Traboulsi syndrome
Author:
Affiliation:
1. VST Centre for Glaucoma Care, LV Prasad Eye Institute, Hyderabad, India
2. Prof Brien Holden Eye Research Centre, LV Prasad Eye Institute, Hyderabad, India
Funder
DST
SERB
Ministry of Science and Technology
Government of India
Hyderabad Eye Research Foundation
Publisher
Informa UK Limited
Subject
Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1836659
Reference22 articles.
1. A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome
2. A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome
3. A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
4. Mutations in ASPH Cause Facial Dysmorphism, Lens Dislocation, Anterior-Segment Abnormalities, and Spontaneous Filtering Blebs, or Traboulsi Syndrome
5. Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance
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1. Traboulsi syndrome: A case report;Asian Journal of Surgery;2024-01
2. Traboulsi syndrome without features of Marfan syndrome caused by a novel homozygous ASPH variant associated with a heterozygous FBN1 variant;Ophthalmic Genetics;2023-05-03
3. Traboulsi syndrome: A rare eye disease and its genetic association;TNOA Journal of Ophthalmic Science and Research;2023
4. Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome;European Journal of Medical Genetics;2022-10
5. Expanding the clinical spectrum and management of Traboulsi syndrome: report on two siblings homozygous for a novel pathogenic variant in ASPH;Ophthalmic Genetics;2021-05-21
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