CCL

Összesen 2 találat.
#/oldal:
Részletezés:
Rendezés:

1.

001-es BibID:BIBFORM057829
Első szerző:Orosz Orsolya (molekuláris biológus)
Cím:Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene / Orsolya Orosz, Miklós Czeglédi, Irén Kántor, István Balogh, Attila Vajas, Lili Takács, András Berta, Gergely Losonczy
Dátum:2015
ISSN:1090-0535
Megjegyzések:PURPOSE:NEUROD1 is a tissue-specific basic helix loop helix (bHLH) protein involved in the development and maintenance of the endocrine pancreas and neuronal elements. Loss of NEUROD1 causes ataxia, cerebellar hypoplasia, sensorineural deafness, and severe retinal dystrophy in mice. Heterozygous loss-of-function mutations in NEUROD1 have previously been described as a cause of maturity-onset diabetes of the young (MODY) and late-onset diabetes. To date, homozygous loss-of-function NEUROD1 mutations have only been detected in two patients. Both mutations caused permanent neonatal diabetes and severe neurologic defects, including visual impairment. However, a detailed ophthalmological phenotype of this novel syndrome has not yet been reported. Our aim was to characterize the ophthalmological phenotype associated with the previously reported homozygous c.427_428CT mutation in the NEUROD1 gene.METHODS:The female patient was investigated on multiple occasions between 2009 (age 14) and 2014 (age 19), including visual acuity testing, automated perimetry, funduscopy, anterior-segment imaging, optical coherence tomography of the posterior pole, standard full-field electroretinography, and fundus-autofluorescence imaging.RESULTS:The patient had nyctalopia, blurry vision, and visual field constriction from early childhood. Her best corrected visual acuity ranged between 20/25 and 15/25 during the investigation period. Perimetry showed concentric constriction of the visual field, sparing only the central 30 degrees in both eyes. The anterior segment did not show any morphological changes. Optical coherence tomography revealed total absence of the photoreceptor layer of the retina outside the fovea, where a discoid remnant of cone photoreceptors could be detected. Neither setting of the standard full-field electroretinography could detect any electrical response from the retina. Color fundus photos presented peripheral chorioretinal atrophy and central RPE mottling. A hyperreflective parafoveal ring was detected on fundus autofluorescent photos, a characteristic sign of hereditary retinal dystrophies.CONCLUSIONS:To the best of our knowledge, this is the first report on the ophthalmological phenotype associating with a homozygous NEUROD1 null mutation in humans. Our results indicate that the loss of NEUROD1 has similar functional and anatomic consequences in the human retina as those described in mice. The present description can help the diagnosis of future cases and provide clues on the rate of disease progression.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Neurod1
retinal degeneration
Megjelenés:Molecular Vision. - 5 : 21 (2015), p. 124-130. -
További szerzők:Czeglédi Miklós Kántor Irén Balogh István (1972-) (molekuláris biológus, genetikus) Vajas Attila (1973-) (szemész) Takács Lili (1969-) (szemész) Berta András (1955-) (szemész, gyermekszemész) Losonczy Gergely (1977-) (szemész)
Pályázati támogatás:OTKA-K109076
OTKA
Internet cím:Szerző által megadott URL
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

2.

001-es BibID:BIBFORM001214
Első szerző:Takács Lili (szemész)
Cím:TGFBI (BIGH3) gene mutations in Hungary-report of the novel F547S mutation associated with polymorphic corneal amyloidosis / Lili Takács, Gergely Losonczy, Klára Matesz, István Balogh, Zoltán Sohajda, Károly Tóth, Ferenc Fazakas, György Vereb, András Berta
Dátum:2007
Megjegyzések:To identify mutations in the Transforming Growth Factor Beta Induced (TGFBI) gene in Hungarian patients with corneal dystrophy and to characterize histological features of their corneal buttons excised during penetrating keratoplasty. METHODS: Exons of TGFBI were sequenced in 38 members of 15 unrelated families with corneal dystrophy and exon 12 was also sequenced in 100 healthy controls from the same population. Immunohistological analysis of available corneal buttons excised during penetrating keratoplasty was also performed. RESULTS: Molecular genetic analysis revealed a heterozygous R124C mutation in 18 patients with lattice type I dystrophy. A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bucklers (one patient) and Thiel-Behnke (three patients) dystrophy. Three patients with "atypical granular" dystrophy later diagnosed as Avellino dystrophy were heterozygous for the R124H mutation. A novel heterozygous mutation (T1640C) causing a F547S amino acid exchange was detected in a patient with polymorphic corneal amyloidosis. Immunohistochemistry showed the presence of BIGH3 protein deposits in all examined corneal buttons. Electron microscopy confirmed the presence of amyloid fibrils in the case of the novel mutation. CONCLUSIONS: Our results indicate that molecular genetic analysis is required to confirm the diagnosis of corneal dystrophies. We report the first cases of Avellino dystrophy from Central-Eastern Europe. We conclude that the novel F547S mutation causes polymorphic corneal amyloidosis since no other mutations were detected in the TGFBI gene of this patient and the novel mutation could not be found in healthy controls.
Tárgyszavak:Orvostudományok Természettudományok Klinikai orvostudományok Elméleti orvostudományok Biológiai tudományok idegen nyelvű folyóiratközlemény külföldi lapban
TGFBI (BIGH3)
gene mutation
F547S
polymorphic corneal amyloidosis
Megjelenés:Molecular Vision. - 13 (2007), p. 1976-1983. -
További szerzők:Losonczy Gergely (1977-) (szemész) Matesz Klára (1949-) (anatómus, neurobiológus) Balogh István (1972-) (molekuláris biológus, genetikus) Sohajda Zoltán (1969-) (szemész) Tóth Károly (orvos) Fazakas Ferenc (1969-) (molekuláris biológus) Vereb György (1965-) (biofizikus, orvos) Berta András (1955-) (szemész, gyermekszemész)
Internet cím:elektronikus változat
elektronikus változat
Borító:
Rekordok letöltése1