TBX1

[pnrobinson]

See if we can curate the following cases. CAFS is equivalent to Velocardiofacial syndrome.

TBX1

Data in this notebook was taken from Yagi H, et al. (2003) Role of TBX1 in human del22q11.2 syndrome. Lancet. 2003 Oct 25;362(9393):1366-73. PMID:14585638

The authors report:
Conotruncal anomaly face is characterised by nine facial features, including ocular hypertelorism, lateral displacement of the inner canthi, short palpebral fissures, swollen eyelids, dysmorphism of the nose, low-set ears and minor ear-lobe anomalies, and is almost always associated with velopharyngeal insufficiency and a nasal voice. On the basis of the phenotypic study, dysmorphism of the nose—a new description of a nose that seems to be divided into two parts (upper part and lower part) at the join of the wing and at the sides—was added. Dysmorphism of the nose was observed consistently in patients with the 22q11.2 deletion.
Each positive characteristic feature of the nine facial features of conotruncal anomaly face and velopharyngeal insufficiency was
counted as 1 point. An atypical finding was counted as 0·5 point.

We mapped the variants to HGNC notation as follows:

• Patient F1:443T→A (F148Y): NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr) (See ClinVar VCV000007563.3)
• Patient F2 had the 928G→A (G310S): NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) (See ClinVar VCV000007564.14)
• Patient F3-1: 1223delC (deletion of cytosine at 1223):NM_001379200.1(TBX1):c.1250del (p.Ser417fs) See ClinVar RCV001815166.9)