We observed bilateral cataracts on second trimester ultrasound, in two consecutive pregnancies, with no other structural defects detected. The parents were unrelated and had no family history for the disease. The first pregnancy was terminated in week 22. Copy number variation analysis revealed, in both the aborted fetus and the mother, a 495 kb duplication at 22q11.23 encompassing CRYBB3 and CRYBB2, and not present in variation databases. In the second pregnancy, lens hyperechogenicity was detected by ultrasound at week 13 and 4 days. The identical duplication at 22q11.23 was found in the fetus and considered as possibly pathogenic. At weeks 22 and 30, smaller orbit measurements were elucidated on ultrasound, raising concerns as to the underlying molecular genetic cause, necessitating further investigation. Whole-exome sequencing, using DNA of the first fetus, was performed shortly after the birth of a male child, and two truncating RAB3GAP1 mutations were detected: c.538G>T; p. (Glu180*) and c.943C>T; p. (Arg315*). Neither mutation has been previously reported to be disease-causing; however, evaluation in the context of previously published literature indicated their deleterious nature, implying a clinical diagnosis of Warburg micro syndrome or Martsolf syndrome. Sanger sequencing confirmed segregation of the two mutations within the family, consistent with autosomal recessive inheritance. The child born from the second pregnancy showed features typical of Warburg micro syndrome, with the exception of microcephaly, at age 31 months. © 2016 Wiley Periodicals, Inc.

• MeSH
• atrofie optického nervu diagnóza   genetika   patofyziologie   MeSH
• beta-krystaliny - řetězec B genetika   MeSH
• exony genetika   MeSH
• hypogonadismus diagnóza   genetika   patofyziologie   MeSH
• katarakta vrozené   diagnóza   genetika   patofyziologie   MeSH
• kojenec MeSH
• lidé MeSH
• mentální retardace diagnóza   genetika   patofyziologie   MeSH
• mikrocefalie diagnóza   genetika   patofyziologie   MeSH
• mnohočetné abnormality diagnóza   genetika   patofyziologie   MeSH
• mutace MeSH
• novorozenec MeSH
• potracený plod patofyziologie   MeSH
• rab3 proteiny vázající GTP genetika   MeSH
• rodokmen MeSH
• rohovka abnormality   patofyziologie   MeSH
• sekvenční analýza DNA MeSH
• těhotenství MeSH
• ultrasonografie prenatální MeSH
• variabilita počtu kopií segmentů DNA genetika   MeSH
• Check Tag
• kojenec MeSH
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

Diabetes has become one of the major diseases affecting human health. Diabetic cataracts (DCs) are considered a common complication in diabetic patients. The present study investigated differences in lens proteomic profiles between DCs and age-related cataracts (ACs) to determine the mechanism underlying the formation of DCs. Intrasurgical samples were collected from eight DC patients and 12 AC patients, and lens proteins were extracted by lysis and separated using two-dimensional gel electrophoresis (2-DE). The electrophoretic bands were analysed using PD-Quest software 8.0.1. Differentially expressed proteins were identified by matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF-MS) and peptide mass fingerprinting combined with protein database searching. In the 2-DE maps, the DC and AC lens proteins migrated in the region of pH 5-9 with a relative molecular weight (RMW) of 14-97 kDa, whereas the RMW of more abundant crystallin was 20-31 kDa. Approximately three protein spots with differential intensity were detected. Two crystallin proteins (αB and βB1) were identified using MALDI-TOF-MS. Proteomic analysis of the crystalline humour is feasible, and the proteins can be well separated; moreover, differentially expressed lens proteins can be analysed using 2-DE and mass spectrometry to compare DC and AC. The present results indicate that the αB and βB1 crystallins may accelerate the development of DCs. These techniques offer new avenues for mechanistic evaluation and future prevention or therapy of DCs.

• MeSH
• 2D gelová elektroforéza MeSH
• alfa-krystaliny - řetězec B biosyntéza   genetika   MeSH
• beta-krystaliny - řetězec B biosyntéza   genetika   MeSH
• diabetes mellitus 1. typu komplikace   MeSH
• dospělí MeSH
• hmotnostní spektrometrie MeSH
• katarakta etiologie   genetika   metabolismus   MeSH
• komplikace diabetu etiologie   genetika   metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• oční čočka chemie   MeSH
• oční proteiny biosyntéza   genetika   MeSH
• proteom MeSH
• regulace genové exprese * MeSH
• stanovení celkové genové exprese MeSH
• stárnutí genetika   metabolismus   patologie   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH

The most common complication following cataract surgery is posterior capsule opacification. This results from migration, proliferation and transdifferentiation of residual lens epithelial cells (LECs). We studied the effect of several culture substrates and culture conditions on LEC proliferation and ?-smooth muscle actin (?-SMA) expression. We used primary and secondary cultures of porcine LECs cultivated on collagen I, collagen IV, microscopic glass slides, and uncoated plastic dishes. We studied the cell proliferation and expression of ?-SMA and ?-, ß-, and ?-crystallins. The effect of the medium exchange protocol was studied using the TOTL-86 rabbit epithelial lens cell line. There was no difference in growth characteristics of primary cultures on different substrates. In secondary cultures, LECs adhered better to collagen-coated surfaces. The culture substrate influenced LEC proliferation and ?-SMA expression. The proliferation was greater when the medium was changed than when extra medium was added on the 4th day. The cells did not synthesize ?-, ß- or ?-crystallin. The culture substrate influences the adhesion ability, proliferation and ?-SMA expression in lens epithelial cells. In addition, it is necessary to consider the effects of the medium exchange protocol, serum supplementation, cell density and other cell culture conditions in lens epithelial cell experiments.

• MeSH
• aktiny metabolismus   MeSH
• alfa-krystaliny metabolismus   MeSH
• beta-krystaliny metabolismus   MeSH
• epitelové buňky cytologie   metabolismus   účinky léků   MeSH
• financování organizované MeSH
• gama-krystaliny metabolismus   MeSH
• imunohistochemie MeSH
• kolagen farmakologie   MeSH
• králíci MeSH
• kultivační média farmakologie   MeSH
• kultivované buňky MeSH
• myocyty hladké svaloviny účinky léků   MeSH
• oční čočka cytologie   MeSH
• prasata MeSH
• proliferace buněk účinky léků   MeSH
• regulace genové exprese účinky léků   MeSH
• zvířata MeSH
• Check Tag
• králíci MeSH
• zvířata MeSH