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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Kim, Sang-Beom Lee, Ja Hyun Hong, Young Bin Lee, Jinho Hong, Hyun Dae Jung, Sung-Chul Koo, Heasoo Chung, Ki Wha Yoo, Jeong Hyun Choi, Byung-Ok |
| Description | Author Affiliation: Lee J ( Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135710, Republic of Korea.); Jung SC ( Department of Biochemistry, Ewha Womans University School of Medicine, Seoul 120750, Republic of Korea.); Hong YB ( Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135710, Republic of Korea.); Yoo JH ( Department of Radiology, Ewha Womans University School of Medicine, Seoul 120750, Republic of Korea.); Koo H ( Department of Pathology, Ewha Womans University School of Medicine, Seoul 120750, Republic of Korea.); Lee JH ( Department of Biological Science, Kongju National University, Konju, Chungnam 314701, Republic of Korea.); Hong HD ( Department of Biological Science, Kongju National University, Konju, Chungnam 314701, Republic of Korea.); Kim SB ( Department of Neurology, Kyung Hee University College of Medicine, Seoul 143601, Republic of Korea.); Chung KW ( Department of Biological Science, Kongju National University, Konju, Chungnam 314701, Republic of Korea.); Choi BO ( Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135710, Republic of Korea.) |
| Abstract | Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semidominant patterns of inheritance. The majority of these patients were diagnosed with Behr syndrome, characterized by optic atrophy, ataxia and peripheral neuropathy. The present study describes a 10-year-old boy with Behr syndrome presenting with earlyonset severe optic atrophy, sensorimotor neuropathy, ataxia and congenital cataracts. He had optic atrophy and was declared legally blind at six years old. Electrophysiological, radiological, and histopathological findings were compatible with axonal sensorimotor polyneuropathy. At birth, he presented with a congenital cataract, which has not been previously described in patients with OPA1 mutations. Whole exome sequencing indicated a pair of novel compound heterozygous mutations: p.L620fs*13 (c.18571858delinsT) and p.R905Q (c.G2714A). Neither mutation was observed in controls (n=300), and thus, they were predicted to be pathogenic by multiple in silico analyses. The mutation sites were highly conserved throughout different vertebrate species. The patients parents did not have any ophthalmic or neurologic symptoms and the results of electrophysiological studies were normal, suggestive of an autosomal recessive pattern of inheritance. The present study identified novel compound heterozygous OPA1 mutations in a patient with recessive optic atrophy, sensorimotor neuropathy and congenital cataracts, indicating an expansion of the clinical spectrum of pathologies associated with OPA1 mutations. Thus, OPA1 gene screening is advisable in the workup of patients with recessive optic atrophy, particularly with Behr syndrome and cataracts. |
| ISSN | 17912997 |
| e-ISSN | 17913004 |
| DOI | 10.3892/mmr.2016.5209 |
| Journal | Molecular Medicine Reports |
| Issue Number | 1 |
| Volume Number | 14 |
| Language | English |
| Publisher | Spandidos Publications |
| Publisher Date | 2016-07-01 |
| Publisher Place | Greece |
| Access Restriction | Open |
| Subject Keyword | Discipline Molecular Biology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Biochemistry Molecular Biology Cancer Research Molecular Medicine Oncology |
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