TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect

Table 1 Phenotype of TCS probands

Patients	Sex	Family history	Downward slanting palpebral fissures	Lower eyelid coloboma	Zygomatic hypoplasia	Mandibular hypoplasia	Microtia	Atresia of external ear canal	Conductive hearing loss	Delayed speech development
2313	F	–	+	+	+	+	–	–	+	–
3538	M	–	+	+	+	+	–	–	+	+
2848	M	–	+	+	+	+	+	+	+	–
2721	F	+	+	–	+	+	+	+	+	+
3314	F	+	+	+	+	+	–	–	+	+
3316	F	+	+	+	+	+	–	–	+	–
3286	M	+	+	+	+	+	–	–	+	+
3287	M	+	+	+	+	+	–	–	+	+
3288	M	+	+	+	+	+	–	–	+	+
3289	F	+	+	–	+	+	–	–	+	–
3290	F	+	+	+	+	+	–	–	+	–
3291	F	+	+	–	+	+	–	–	+	–
3292	F	+	+	+	+	+	+	–	+	–
3293	M	+	+	–	–	+	–	–	+	–

ISSN: 1750-1172