Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8293062 | Biochemical and Biophysical Research Communications | 2018 | 7 Pages |
Abstract
FISH analysis showed a de novo 22q11.2 deletion in two patients. The screening of TBX1 coding sequence identified a novel missense mutation c.569Câ¯>â¯A (p.P190Q) in six unrelated patients and detected two associated known single nucleotide polymorphisms; the c.664Câ¯>â¯T (rs2301558) in three patients and the c.420Tâ¯>â¯C (p.Phe140 Phe) (rs41298814) in one patient. Bioinformatic tools show that the novel missense mutation c.569Câ¯>â¯A could modify the function and the stability of the TBX1 protein. The c.569Câ¯>â¯A mutation was not found in 50 healthy controls. Ours results suggest a deleterious role of the c.569Câ¯>â¯A mutation and strengthen the hypothesis that this mutation might be responsible for the same phenotype spectrum as the 22q11.2 deletion syndrome.
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Biochemistry
Authors
Amel Jaouadi, Mouna Tabebi, Fatma Abdelhedi, Dorra Abid, Fatma Kamoun, Imen Chabchoub, Sirine Maatoug, Hajer Doukali, Neila Belghuith, Mohamed Ali Ksentini, Leila Ammar Keskes, Chahnez Triki, Mongia Hachicha, Samir Kamoun, Hassen Kamoun,