ELIZA

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403337 occurrences (No.43 in the rank) during 5 years in the PubMed. [cache]

406) Based on our results, we believe that these particular mutations in the ABCA4 gene could be associated with a specific disease phenotype characterized by funduscopic appearance similar to pattern dystrophy.

--- ABSTRACT ---

PMID:34008801 DOI:10.5935/0004-2749.20210064

2021 Arquivos brasileiros de oftalmologia

* Unusual clinical phenotype of Stargardt disease.

- Mutations in the ABCA4 gene are a common cause of Stargardt disease; however, other retinal phenotypes have also been associated with mutations in this gene. We describe an observational case report of an unusual clinical phenotype of Stargardt disease. The ophthalmological examination included best corrected visual acuity, color and autofluorescence photography, fluorescein angiography, optical coherence tomography, and electrophysiology tests. Targeted next-generation sequencing of 99 genes associated with inherited retinal dystrophies was performed in the index patient. A 48-year-old woman presented with a best corrected visual acuity of 20/25 and 20/20. Fundoscopy revealed perifoveal yellow flecked-like lesions. Fluorescein angiography and fundus autofluorescence findings were consistent with pattern dystrophy. Pattern electroretinogram demonstrated bilateral decrease of p50 values. Genetic testing identified two heterozygous missense mutations, c.428C>T, p.(Pro143Leu) and c.3113C>T, p.(Ala.1038Val), in the ABCA4 gene. Based on our results, we believe that these particular mutations in the ABCA4 gene could be associated with a specific disease phenotype characterized by funduscopic appearance similar to pattern dystrophy. A detailed characterization of the retinal phenotype in patients carrying specific mutations in ABCA4 is crucial to understand disease expression and ensure optimal clinical care for patients with inherited retinal dystrophies.

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(1)132 expression	(14)5 drive	(27)3 duplications	(40)2 for
(2)14 null	(15)5 editing	(28)3 ontology	(41)2 from
(3)12 expression,	(16)5 mutations	(29)3 signature	(42)2 fusion,
(4)11 and	(17)5 of	(30)3 to	(43)2 have
(5)10 encoding	(18)5 regulation	(31)3 which	(44)2 is
(6)10 set	(19)4 networks	(32)2 analysis	(45)2 ontologies
(7)8 in	(20)4 regulatory	(33)2 are	(46)2 or
(8)8 that	(21)4 silencing	(34)2 assay,	(47)2 pathways
(9)7 1	(22)4 transcription	(35)2 called	(48)2 profile
(10)6 interaction	(23)4 transfer	(36)2 cluster	(49)2 promoter
(11)6 therapy	(24)3 1/itaconate	(37)2 delivery	(50)2 sequencing
(12)6 was	(25)3 co-expression	(38)2 detection	(51)2 sets
(13)5 Expression	(26)3 coexpression	(39)2 expressions	(52)2 transcripts

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--- WordNet output for gene --- =>遺伝子 Overview of noun gene The noun gene has 1 sense (no senses from tagged texts) 1. gene, cistron, factor -- ((genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity; "genes were formerly called factors") --- WordNet end ---