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1. Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334-kb deletion: A case report

Author

Papoulidis, I. Oikonomidou, E. Orru, S. Siomou, E. Kontodiou, M. Eleftheriades, M. Bacoulas, V. Cigudosa, J.C. Suela, J. Thomaidis, L. Manolakos, E.

Abstract

Thrombocytopenia-absent radius syndrome (TAR) is a rare genetic disorder that is characterized by the absence of the radius bone in each forearm and a markedly reduced platelet count that results in life-threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband. The 1q21.1 deletion syndrome phenotype includes Tar and other features such as mental retardation, autism and microcephaly. This study describes a case of a prenatally diagnosed fetus with compound inheritance of a small (334-kb) deletion, as detected by array-comparative genomic hybridization, and a 5' untranslated region (UTR) low-frequency allele (rs139428292) in gene RBM8A as detected by Sanger sequencing. The study describes the first case of prenatal analysis of TAR syndrome in a fetus with compound inheritance of a 334-kb deletion in the 1q21.1 region and a low-frequency 5' UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of TAR syndrome.

Published
2014

2. Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report.

Author

Papoulidis I, Oikonomidou E, Orru S, Siomou E, Kontodiou M, Eleftheriades M, Bacoulas V, Cigudosa JC, Suela J, Thomaidis L, and Manolakos E

Subjects
5' Untranslated Regions genetics, Alleles, Child, Preschool, Chromosomes, Human, Pair 1, Congenital Bone Marrow Failure Syndromes, Female, Gene Deletion, Humans, Karyotyping, Male, Phenotype, Pregnancy, Prenatal Diagnosis, Radius, Thrombocytopenia genetics, Ultrasonography, Prenatal, Upper Extremity Deformities, Congenital genetics, Polymorphism, Single Nucleotide, RNA-Binding Proteins genetics, Thrombocytopenia diagnosis, Upper Extremity Deformities, Congenital diagnosis
Abstract

Thrombocytopenia‑absent radius syndrome (TAR) is a rare genetic disorder that is characterized by the absence of the radius bone in each forearm and a markedly reduced platelet count that results in life‑threatening bleeding episodes (thrombocytopenia). Tar syndrome has been associated with a deletion of a segment of 1q21.1 cytoband. The 1q21.1 deletion syndrome phenotype includes Tar and other features such as mental retardation, autism and microcephaly. This study describes a case of a prenatally diagnosed fetus with compound inheritance of a small (334 kb) deletion, as detected by array‑comparative genomic hybridization, and a 5' untranslated region (UTR) low‑frequency allele (rs139428292) in gene RBM8A as detected by Sanger sequencing. The study describes the first case of prenatal analysis of TAR syndrome in a fetus with compound inheritance of a 334‑kb deletion in the 1q21.1 region and a low‑frequency 5' UTR single nucleotide polymorphism, and provides confirmation of the causal nature of the RBM8A gene in the diagnosis of TAR syndrome.

Published
2014
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