Expanding the phenotype of thrombocytopenia absent radius syndrome with hypospadias
| Autor: | Michaela Hýblová, Vanda Rísová, Jan Miertus, Darina Ďurovčíková, Erika Tomková, Matteo Bertelli, Paolo Enrico Maltese |
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| Rok vydání: | 2020 |
| Předmět: |
Male
0106 biological sciences 0301 basic medicine Proband Pathology medicine.medical_specialty Bioengineering Compound heterozygosity 01 natural sciences Applied Microbiology and Biotechnology 03 medical and health sciences Thyroid dyshormonogenesis Bilateral radial aplasia Pathognomonic 010608 biotechnology Congenital Hypothyroidism medicine Congenital Bone Marrow Failure Syndromes Humans Genetic Testing Upper Extremity Deformities Congenital Exome sequencing business.industry TAR syndrome Infant RNA-Binding Proteins General Medicine medicine.disease Thrombocytopenia Radius Phenotype 030104 developmental biology Mutation Absent radius business Biotechnology |
| Zdroj: | Journal of Biotechnology. 311:44-48 |
| ISSN: | 0168-1656 |
| DOI: | 10.1016/j.jbiotec.2020.02.011 |
| Popis: | Rare genetic diseases and syndromes may appear with unique features in some patients. In genetically-solved cases, this situation indicates a phenotypic expansion of the syndrome with additional features (i.e. the disease-associated gene gives rise to unusual clinical presentation). However, this situation can also hide a multilocus pathogenic variation that cannot be solved genetically except by a massive sequencing approach, such as exome sequencing. Here we describe the case of a child with bilateral radial aplasia, transient thrombocytopenia and anemia, cow's milk intolerance, hypospadias, facial dysmorphism, mild hypothyroidism and umbilical and inguinal hernia. Bilaterally absent radius, presence of thumbs and low platelet count are pathognomonic of thrombocytopenia absent radius (TAR) syndrome, but the child also showed other features beyond those reported in the literature. Since various diseases resembling the proband's phenotype required differential diagnosis, clinical exome sequencing was performed. The results showed compound heterozygous mutations in the RBM8A gene, confirming the suspicion of TAR syndrome. A truncating heterozygous variant in the DUOX2 gene, known to be associated with transient thyroid dyshormonogenesis type 6 (TDH6), was also detected and may explain the proband's mild hypothyroidism. |
| Databáze: | OpenAIRE |
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