Table 3.

Features of 5 patients with clinical 22q11.2 deletion syndrome but without TBX1 haploinsufficiency, in whom CHD7 mutations were found

Patient ID	CHD7	CHD7	Clinical features*
CH95-172	c.493_496delinsGG	p.Pro165fs	suspected of having 22q11.2 deletion syndrome, no further information available
CH95-218	c.2440C>T	p.Gln814X	ADHD, speech therapy, sensorineural/conductive hearing loss, scoliosis, myopia, retinal coloboma, dysmorphic features
CH94-143	c.3024T>G	p.Tyr1008X	thymic hypoplasia, CLP, hypocalcemia, normal cardiac ultrasound, auricular dysplasia
CH96-184	c.4357C>T	p.Gln1453X	low PTH, low Ca, low T cells, small thymus, dysmorphia, micrognathia, low-set malformed ears, choanal atresia, velopharyngeal incompetence, laryngotracheomalacia, ASD
CH99-214F	c.4424del	p.Glu1475fs	suspected of having 22q11.2 deletion syndrome, no further information available

^*Typical CHARGE features are indicated in bold.