A novel 5 bp homozygous deletion mutation in ASPH gene associates with Traboulsi syndrome

Ophthalmic Genet. 2019 Apr;40(2):185-187. doi: 10.1080/13816810.2019.1605390. Epub 2019 Apr 23.

Authors

Premanand Chandran¹, Prakash Chermakani², Prasanna Venkataraman¹, Siva Prasanna Thilagar¹, Ganesh V Raman¹, Periasamy Sundaresan²

Affiliations

¹ a Glaucoma services , Aravind Eye Hospital , Coimbatore , Tamil Nadu , India.
² b Department of Genetics , Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital , Madurai , India.

PMID: 31012784
DOI: 10.1080/13816810.2019.1605390

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Base Pairing
Calcium-Binding Proteins / genetics*
Craniofacial Abnormalities / genetics*
Ectopia Lentis / genetics*
Exons / genetics
Gene Deletion
Gonioscopy
Homozygote
Humans
Iris / abnormalities*
Male
Membrane Proteins / genetics*
Microscopy, Acoustic
Mixed Function Oxygenases / genetics*
Muscle Proteins / genetics*
Polymerase Chain Reaction
Sequence Deletion*
Syndrome

Substances

Calcium-Binding Proteins
Membrane Proteins
Muscle Proteins
Mixed Function Oxygenases
ASPH protein, human

Supplementary concepts

Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism