Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy-Reference-Cited by-同舟云学术

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy

Published:2019-11-02 Issue:6 Volume:40 Page:570-573
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Gaier Eric D.¹²³⁴^ORCID,Sahai Inderneel³⁵,Wiggs Janey L.²³^ORCID,McGeeney Brian³⁶^ORCID,Hoffman Jodi⁷⁸^ORCID,Peeler Crandall E.⁷⁹¹⁰^ORCID

Affiliation:

1. Department of Ophthalmology, Boston Children’s Hospital, Boston, Massachusetts, USA

2. Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA

3. Harvard Medical School, Boston, Massachusetts, USA

4. Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA

5. Departments of Genetics and Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA

6. Department of Neurology, Brigham and Women’s Hospital, Boston, Massachusetts, USA

7. Boston University School of Medicine, Boston, Massachusetts, USA

8. Department of Genetics, Boston Medical Center, Boston, Massachusetts, USA

9. Department of Ophthalmology, Boston Medical Center, Boston, Massachusetts, USA

10. Department of Neurology, Boston Medical Center, Boston, Massachusetts, USA

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1711428

Reference7 articles.

1. Autosomal dominant optic atrophy and cataract “plus” phenotype including axonal neuropathy

2. Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

3. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

4. Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria

5. A familial syndrome of infantile optic atrophy, movement disorder, and spastic paraplegia

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