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      Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

      case-report

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          Key Clinical Message

          Clinical diagnostic exome sequencing ( DES) is currently infrequently used for detecting uniparental disomy ( UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identified through DES. We therefore recommend routine UPD analysis during DES to identify this genetic aberration.

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          Mechanisms leading to uniparental disomy and their clinical consequences.

          W Robinson (2000)
          Uniparental disomy (UPD) refers to the situation in which both copies of a chromosome pair have originated from one parent. In humans, it can result in clinical conditions by producing either homozygosity for recessive mutations or aberrant patterns of imprinting. Furthermore, UPD is frequently found in conjunction with mosaicism for a chromosomally abnormal cell line, which can also contribute to phenotypic abnormalities. Investigations into the mechanisms by which UPD may arise have helped to expand our general awareness of the impact of chromosomal abnormalities and chromosomal mosaicism in normal human development. Specifically, it appears that errors in the transmission of a chromosome from parent to gamete and during early somatic cell divisions are remarkably common but that embryo and cell selection during early embryogenesis help to ensure the presence of a numerically balanced chromosome complement in the developing fetus. UPD is also likely to occur within a portion of cells in all individuals simply as a consequence of somatic recombination occurring during mitotic cell divisions. This can be an important step in cancer development as well as a contributing factor to other late onset diseases. This review summarizes mechanisms by which UPD may arise and their associated clinical consequences.
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            Cytogenetic contribution to uniparental disomy (UPD)

            Thomas Liehr (2010)
            Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement. Thus, additional (molecular) cytogenetic characterization of UPD cases is essential. Up to now > 1,100 UPD cases detected in clinical, non-tumor cases are reported in the literature. Recently, these cases were summarized in a regularly updated, freely available online database http://www.med.uni-jena.de/fish/sSMC/00START-UPD.htm. Based of this, here the presently known imprinting syndromes, the chromosomal contribution to UPD phenomenon, and the cytogenetic subgroups of UPD, including cases with normal, abnormal balanced or unbalanced karyotype (like e.g. small supernumerary marker chromosomes and Robertsonian translocations) and segmental UPD are reviewed. Furthermore, chromosome fragmentation as a possible mechanism of trisomic rescue is discussed, which might help to explain the observed 1:9 rate of maternal versus paternal UPD present in cases with original trisomic karyotypes. Overall, as UPD is more but an interesting rarity, the genetic background of each "UPD-patient" needs to be characterized besides by molecular methods, also by molecular cytogenetics in detail.
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              Mosaicism and uniparental disomy in prenatal diagnosis.

              Thomas Eggermann, Lukas Soellner, Karin Buiting … (2015)
              Chromosomal mosaicism is the presence of numerous cell lines with different chromosomal complements in the same individual. Uniparental disomy (UPD) is the inheritance of two homologous chromosomes from the same parent. These genetic anomalies arise from errors in meiosis and/or mitosis and can occur independently or in combination. Due to the formation mechanisms of UPD, low-level or undetected mosaicisms are assumed for a significant number of UPD cases. The pre- and postnatal clinical consequences of mosaicism for chromosomal aberrations and/or UPD depend on the gene content of the involved chromosome. In prenatal evaluation of chromosomal mosaicism and UPD, genetic counseling should be offered before any laboratory testing.
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                Author and article information

                Contributors
                Samin A. Sajan:
                ORCID: http://orcid.org/0000-0002-9689-2597
                asajan@ambrygen.com
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 08 May 2018
                Publication date Collection: July 2018
                Volume: 6
                Issue: 7 ( doiID: 10.1002/ccr3.2018.6.issue-7 )
                Pages: 1208-1213
                Affiliations
                [ 1 ] Department of Clinical Genomics Ambry Genetics Aliso Viejo CA USA
                [ 2 ] Specially for Children Genetics Austin TX USA
                [ 3 ]Present address: Children's Hospital of Philadelphia Philadelphia PA USA
                Author notes
                [*] [* ] Correspondence

                Samin A. Sajan, Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.

                Email: asajan@ 123456ambrygen.com

                Author information
                http://orcid.org/0000-0002-9689-2597
                Article
                Publisher ID: CCR31575
                DOI: 10.1002/ccr3.1575
                PMC ID: 6028413
                SO-VID: 085a9a68-58ac-4d13-8bf5-e42ff259c641
                Copyright © © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 07 December 2017
                Date revision received : 19 March 2018
                Date accepted : 30 March 2018
                Page count
                Figures: 1, Tables: 1, Pages: 6, Words: 3119
                Categories
                Subject: Case Report
                Subject: Case Reports
                Custom metadata
                source-schema-version-number 2.0
                component-id ccr31575
                cover-date July 2018
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_NLMPMC version:version=5.4.1.1 mode:remove_FC converted:02.07.2018

                Keywords: developmental anomalies,diagnostic exome sequencing,gli2,uniparental disomy
                Data availability:
                Keywords: developmental anomalies, diagnostic exome sequencing, gli2, uniparental disomy

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