Abstract | BACKGROUND: METHODS: RESULTS: The NGS results indicated that these two patients carried two heterozygous variants in TBXAS1, exon7, c.583_584del, p.Ala195Leufs*12, and exon12, c.1420G>T, p.Gly474Trp, which were inherited from their mother and father, respectively. Patients 1 and 2 have been on chronic oral steroids with normalization of hemoglobin and platelet count after steroid initiation. Patient 3 is their sister who has normal blood counts but also has the same variants in TBXAS1 as her brothers. Radiographs showed cortical bone thickening and she has not required any treatment or transfusion. CONCLUSION: We report three Caucasian siblings from non-consanguineous parents with novel compound heterozygous variants of TBXAS1 presenting with the phenotypes of GHDD. These three cases illustrate the variable clinical expressivity of the GHDD from two-compound heterozygous pathogenic variants of TBXAS1.
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Authors | Sun Young Kim, Alexander Ing, Shunyou Gong, Kai Lee Yap, Rukhmi Bhat |
Journal | Molecular genetics & genomic medicine
(Mol Genet Genomic Med)
Vol. 9
Issue 3
Pg. e1494
(03 2021)
ISSN: 2324-9269 [Electronic] United States |
PMID | 33595912
(Publication Type: Case Reports, Journal Article)
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Copyright | © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. |
Chemical References |
- Steroids
- Thromboxane-A Synthase
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Topics |
- Anemia, Refractory
(drug therapy, genetics, pathology)
- Bone Density
- Child
- Child, Preschool
- Female
- Hematopoiesis
- Heterozygote
- Humans
- Male
- Mutation
- Osteochondrodysplasias
(drug therapy, genetics, pathology)
- Pedigree
- Steroids
(therapeutic use)
- Thromboxane-A Synthase
(genetics)
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