ArticleClinical diabetes and endocrinology2019
A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome.
Article in Clinical diabetes and endocrinology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 11 citations in OpenAlex.
- Hypoparathyroidism with aJCEM case reports · 2026Article
- Brain and behavioural anomalies caused byLife science alliance · 2025Article
- Tbx1 haploinsufficiency leads to local skull deformity, paraflocculus and flocculus dysplasia, and motor-learning deficit in 22q11.2 deletion syndrome.Nature communications · 2024Article
- Disruption of BMP4 signaling is associated with laryngeal birth defects in a mouse model.Developmental biology · 2023Article
- A phenotypic rescue approach identifies lineage regionalization defects in a mouse model of DiGeorge syndrome.Disease models & mechanisms · 2022Article
- Pharmacological Rescue of the Brain Cortex Phenotype ofFrontiers in molecular neuroscience · 2021Article
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3 authors at 1 institution in 1 country.
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Abstract
backgroundThe heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart disease (CHD), thymic aplasia and hypoparathyroidism. Such microdeletions are usually detectable by fluorescence in situ hybridization (FISH). CASE PRESENTATION: We report a case of a twenty-three year-old female who presented with clinical features of chromosome 22q11.2 deletion syndrome including cardiac anomalies, hypoparathyroidism and dysmorphic facial features. FISH did not reveal a 22q11.2 microdeletion. Further genetic analysis showed T box-1 (TBX1) heterozygous mutation.
conclusionsThe TBX1 gene plays a significant role in the development of fourth pharyngeal arch structures. Mutations of TBX1, which is found at chromosome 22q11.21 can be responsible for the development of syndromes classically associated with chromosome 22q11.2 deletions. This case emphasizes that the TBX1 gene, among other genes, can be responsible for the developmental anomalies seen in these syndromes.
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