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Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping.
Cytogenet Genome Res. 2020; 160(6):309-315.CG

Abstract

Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly, cortical dysplasia, intellectual disability, ocular abnormalities, spastic diplegia, and microgenitalia. WARBM has 4 subtypes arising from pathogenic variants in 4 genes (RAB18, RAB3GAP1, RAB3GAP2, and TBC1D20). Here, we report on a patient with a homozygous pathogenic c.665delC (p.Pro222HisfsTer30) variant in the RAB3GAP1 gene identified by whole-exome sequencing (WES) analyses. Only his father was a heterozygous carrier, and homozygosity mapping analysis of the WES data revealed large loss-of-heterozygosity regions in both arms of chromosome 2, interpreted as uniparental isodisomy. This uniparental disomy pattern could be due to paternal meiosis I nondisjunction because of the preserved heterozygosity in the pericentromeric region. This report provides novel insights, including a rare form of UPD, usage of homozygosity mapping analysis for the evaluation of isodisomy, and the first reported case of WARBM1 as a result of uniparental isodisomy.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

32599602

Citation

Sezer, Abdullah, et al. "Warburg Micro Syndrome 1 Due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected By Whole-Exome Sequencing and Homozygosity Mapping." Cytogenetic and Genome Research, vol. 160, no. 6, 2020, pp. 309-315.
Sezer A, Kayhan G, Koç A, et al. Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping. Cytogenet Genome Res. 2020;160(6):309-315.
Sezer, A., Kayhan, G., Koç, A., Ergün, M. A., & Perçin, F. E. (2020). Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping. Cytogenetic and Genome Research, 160(6), 309-315. https://doi.org/10.1159/000509214
Sezer A, et al. Warburg Micro Syndrome 1 Due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected By Whole-Exome Sequencing and Homozygosity Mapping. Cytogenet Genome Res. 2020;160(6):309-315. PubMed PMID: 32599602.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping. AU - Sezer,Abdullah, AU - Kayhan,Gülsüm, AU - Koç,Altuğ, AU - Ergün,Mehmet A, AU - Perçin,Ferda E, Y1 - 2020/06/27/ PY - 2020/01/15/received PY - 2020/06/02/accepted PY - 2020/7/1/pubmed PY - 2020/9/20/medline PY - 2020/6/30/entrez KW - <italic>RAB3GAP1</italic> KW - Chromosome 2 KW - Homozygosity mapping KW - Segmental paternal uniparental isodisomy KW - Warburg micro syndrome KW - Whole-exome sequencing SP - 309 EP - 315 JF - Cytogenetic and genome research JO - Cytogenet Genome Res VL - 160 IS - 6 N2 - Warburg micro syndrome (WARBM) is a rare autosomal recessive disorder characterized by microcephaly, cortical dysplasia, intellectual disability, ocular abnormalities, spastic diplegia, and microgenitalia. WARBM has 4 subtypes arising from pathogenic variants in 4 genes (RAB18, RAB3GAP1, RAB3GAP2, and TBC1D20). Here, we report on a patient with a homozygous pathogenic c.665delC (p.Pro222HisfsTer30) variant in the RAB3GAP1 gene identified by whole-exome sequencing (WES) analyses. Only his father was a heterozygous carrier, and homozygosity mapping analysis of the WES data revealed large loss-of-heterozygosity regions in both arms of chromosome 2, interpreted as uniparental isodisomy. This uniparental disomy pattern could be due to paternal meiosis I nondisjunction because of the preserved heterozygosity in the pericentromeric region. This report provides novel insights, including a rare form of UPD, usage of homozygosity mapping analysis for the evaluation of isodisomy, and the first reported case of WARBM1 as a result of uniparental isodisomy. SN - 1424-859X UR - https://www.unboundmedicine.com/medline/citation/32599602/Warburg_Micro_Syndrome_1_due_to_Segmental_Paternal_Uniparental_Isodisomy_of_Chromosome_2_Detected_by_Whole_Exome_Sequencing_and_Homozygosity_Mapping_ L2 - https://www.karger.com?DOI=10.1159/000509214 DB - PRIME DP - Unbound Medicine ER -