Table 1.

Reported mutations in patients with tracheal cartilaginous sleeve

Gene	Mutation	Number in literature	Present report	Total
FGFR2	C278F	–	1	1
FGFR2	C278L	–	1	1
FGFR2	C342G	1	–	1
FGFR2	C342R	2	4	6
FGFR2	C342S	2	–	2
FGFR2	C342W	1	–	1
FGFR2	C342Y	–	1	1
FGFR2	S252W	–	1	1
FGFR2	S347C	–	1	1
FGFR2	S351C	6	–	6
FGFR2	S354C	1	–	1
FGFR2	W290C	3*	5	8
FGFR2	Y375C	1	–	1
FGFR3	A391E	1	1	2
TWIST1	Tyr103term	–	1	1
(FGFR2)	Apert, presumed S252W/P253R	7	4	11
(FGFR2)	Beare-Stevenson, presumed Y375C/S372Y	1	–	1
Total with confirmed mutations only		18	16	34
Total including presumed mutations due to specific phenotype		25	20	45

Includes patients with TCS and reported causative mutations. Includes patients from Alli et al.,¹⁶ Hockstein et al.,³ Elloy et al.,²⁶ Wenger et al.,¹⁰ Zackai et al.,¹⁵ Gonzales et al.,²⁷ Cohen and Kreiborg,² Inglis et al.,⁷ Davis et al.,²⁰ and Stater et al.²¹