Javadiyan, S and Craig, JE and Sharma, S and Lower, KM and Casey, T and Haan, E and Souzeau, E and Burdon, KP, Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Ayme-Gripp syndrome), BMC Medical Genetics, 18, (1) Article 52. ISSN 1471-2350 (2017) [Refereed Article]
METHOD: Fifty-one genes associated with congenital cataract were sequenced in the proband using a custom Ampliseq library on the Ion Torrent Personal Genome Machine (PGM). Reads were aligned against the human genome (hg19) and variants were annotated. Variants were prioritised for validation by Sanger sequencing if they were novel, rare or previously reported to be associated with paediatric cataract and were predicted to be protein changing. Variants were assessed for segregation with the phenotype in the affected mother.
RESULT: A novel likely pathogenic variant was identified in the transactivation domain of the MAF gene (c.176C > G, p.(Pro59Arg)) in the proband and his affected mother., but was absent in 326 unrelated controls and absent from public variant databases.
CONCLUSION: The MAF variant is the likely cause of the congenital cataract, Asperger syndrome, seizures, hearing loss and facial characteristics in the proband, providinga diagnosis of Aymé-Gripp syndrome for the family.
|Item Type:||Refereed Article|
|Keywords:||Ayme-Gripp syndrome, Congenital cataract, Ion Ampliseq, MAF, Next generation sequencing, Pediatric cataract, Syndromic cataract|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Burdon, KP (Associate Professor Kathryn Burdon)|
|Deposited By:||Menzies Institute for Medical Research|
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