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

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dc.contributor.author Trkova, M en
dc.contributor.author Hynek, M en
dc.contributor.author Dudakova, L en
dc.contributor.author Becvarova, V en
dc.contributor.author Hlozanek, M en
dc.contributor.author Raskova, D en
dc.contributor.author Vincent, Andrea en
dc.contributor.author Liskova, P en
dc.date.accessioned 2016-07-19T01:38:29Z en
dc.date.issued 2016-07 en
dc.identifier.citation American Journal of Medical Genetics Part A, 2016, 170 (7), pp. 1843 - 1848 en
dc.identifier.issn 1552-4825 en
dc.identifier.uri http://hdl.handle.net/2292/29500 en
dc.description.abstract 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. en
dc.format.medium Print-Electronic en
dc.language eng en
dc.publisher Wiley: 12 months en
dc.relation.ispartofseries American Journal of Medical Genetics Part A en
dc.rights Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher. en
dc.rights.uri https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm en
dc.title Early detection of bilateral cataracts in utero may represent a manifestation of severe congenital disease en
dc.type Journal Article en
dc.identifier.doi 10.1002/ajmg.a.37685 en
pubs.issue 7 en
pubs.begin-page 1843 en
pubs.volume 170 en
dc.rights.holder Copyright: Wiley: 12 months en
dc.identifier.pmid 27256633 en
pubs.end-page 1848 en
dc.rights.accessrights http://purl.org/eprint/accessRights/RestrictedAccess en
pubs.subtype Article en
pubs.elements-id 530257 en
pubs.org-id Medical and Health Sciences en
pubs.org-id School of Medicine en
pubs.org-id Ophthalmology Department en
dc.identifier.eissn 1552-4833 en
pubs.record-created-at-source-date 2016-07-19 en
pubs.dimensions-id 27256633 en


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