Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease

M. Trkova, M. Hynek, L. Dudakova, V. Becvarova, M. Hlozanek, D. Raskova, AL. Vincent, P. Liskova,

. 2016 ; 170 (7) : 1843-8. [pub] 20160603

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc18017225

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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc18017225
003      
CZ-PrNML
005      
20180518111139.0
007      
ta
008      
180515s2016 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1002/ajmg.a.37685 $2 doi
035    __
$a (PubMed)27256633
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Trkova, Marie $u Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic.
245    10
$a Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease / $c M. Trkova, M. Hynek, L. Dudakova, V. Becvarova, M. Hlozanek, D. Raskova, AL. Vincent, P. Liskova,
520    9_
$a 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.
650    _2
$a mnohočetné abnormality $x diagnóza $x genetika $x patofyziologie $7 D000015
650    _2
$a potracený plod $x patofyziologie $7 D037881
650    _2
$a katarakta $x vrozené $x diagnóza $x genetika $x patofyziologie $7 D002386
650    _2
$a rohovka $x abnormality $x patofyziologie $7 D003315
650    _2
$a variabilita počtu kopií segmentů DNA $x genetika $7 D056915
650    _2
$a exony $x genetika $7 D005091
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a lidé $7 D006801
650    _2
$a hypogonadismus $x diagnóza $x genetika $x patofyziologie $7 D007006
650    _2
$a kojenec $7 D007223
650    _2
$a novorozenec $7 D007231
650    _2
$a mentální retardace $x diagnóza $x genetika $x patofyziologie $7 D008607
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a mikrocefalie $x diagnóza $x genetika $x patofyziologie $7 D008831
650    _2
$a mutace $7 D009154
650    _2
$a atrofie optického nervu $x diagnóza $x genetika $x patofyziologie $7 D009896
650    _2
$a rodokmen $7 D010375
650    _2
$a těhotenství $7 D011247
650    _2
$a sekvenční analýza DNA $7 D017422
650    _2
$a ultrasonografie prenatální $7 D016216
650    _2
$a beta-krystaliny - řetězec B $x genetika $7 D038206
650    _2
$a rab3 proteiny vázající GTP $x genetika $7 D020692
655    _2
$a časopisecké články $7 D016428
700    1_
$a Hynek, Martin $u Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic. Department of Gynecology and Obstetrics, Thomayer Hospital, Prague, Czech Republic.
700    1_
$a Dudakova, Lubica $u Institute of Inherited Metabolic Diseases, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
700    1_
$a Becvarova, Vera $u Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic.
700    1_
$a Hlozanek, Martin $u Department of Ophthalmology, Second Faculty of Medicine, Charles University in Prague and Motol Hospital in Prague, Czech Republic.
700    1_
$a Raskova, Dagmar $u Gennet, Centre for Fetal Medicine and Reproductive Genetics, Prague, Czech Republic.
700    1_
$a Vincent, Andrea L $u Faculty of Medical and Health Sciences, Department of Ophthalmology, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.
700    1_
$a Liskova, Petra $u Institute of Inherited Metabolic Diseases, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic. Department of Ophthalmology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
773    0_
$w MED00012678 $t American journal of medical genetics. Part A $x 1552-4833 $g Roč. 170, č. 7 (2016), s. 1843-8
856    41
$u https://pubmed.ncbi.nlm.nih.gov/27256633 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20180515 $b ABA008
991    __
$a 20180518111317 $b ABA008
999    __
$a ok $b bmc $g 1300849 $s 1014065
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2016 $b 170 $c 7 $d 1843-8 $e 20160603 $i 1552-4833 $m American journal of medical genetics. Part A $n Am J Med Genet $x MED00012678
LZP    __
$a Pubmed-20180515

Najít záznam

Citační ukazatele

Možnosti archivace