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Ophthalmic Genetics Volume 38, 2017 - Issue 6
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Case Reports

Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1

Julius T. OattsDepartment of Ophthalmology, University of California, San Francisco, San Francisco, California, USAView further author information
,
Jacque L. DuncanDepartment of Ophthalmology, University of California, San Francisco, San Francisco, California, USAView further author information
,
Creig S. HoytDepartment of Ophthalmology, University of California, San Francisco, San Francisco, California, USAView further author information
,
Anne M. SlavotinekDepartment of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, California, USAView further author information
&
Anthony T. MooreDepartment of Ophthalmology, University of California, San Francisco, San Francisco, California, USA;UCL Institute of Ophthalmology, University College London, London, UK;Inherited Eye Disease and Medical Retina Service, Moorfields Eye Hospital, London, UKCorrespondence[email protected]
View further author information
Pages 559-561 | Received 17 Oct 2016, Accepted 29 Jan 2017, Published online: 02 Mar 2017

References

  • Saitsu H, Yamashita S, Tanaka Y, et al. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. J Hum Genet 2014;59:687–690.
  • Straussberg R, Ganelin-Cohen E, Goldberg-Stern H, et al. Lethal neonatal rigidity and multifocal seizure syndrome–report of another family with a BRAT1 mutation. Eur J Paediatr Neurol 2015;19:240–242.
  • Mundy SA, Krock BL, Mao R, Shen JJ. BRAT1-related disease-identification of a patient without early lethality. Am J Med Genet A 2016;170:699–702.
  • Srivastava S, Olson HE, Cohen JS, et al. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A 2016;170:2265–2273.
  • Horn D, Weschke B, Knierim E, et al. BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. Am J Med Genet A 2016;170:2274–2281.
  • Aglipay JA, Martin SA, Tawara H, et al. ATM activation by ionizing radiation requires BRCA1-associated BAAT1. J Biol Chem 2006;281:9710–9718.
  • So EY, Ouchi T. BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction. BMC Cancer 2014;14:548.
  • Puffenberger EG, Jinks RN, Sougnez C, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 2012;7:e28936.
  • Saunders CJ, NA Miller, Soden SE, et al. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 2012;4:154ra135.

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