. Author manuscript; available in PMC: 2015 Mar 1.

Published in final edited form as: J Pediatr. 2013 Dec 31;164(3):590–595.e3. doi: 10.1016/j.jpeds.2013.11.011

Table 4.

Clinical characteristics of the 3 subjects with a frameshift, splicing, or nonsense variant.

Variant	Age (mo)	Sex (Eth)	Hearing Loss		QTc (ms)	Other condition	Family studies
Variant	Age (mo)	Sex (Eth)	R	L	QTc (ms)	Other condition	Relative	QTc	HL	Variant
KCNQ1^a c.1343dupC p.Glu449Argfs*14	25	F(L)	SNHL S-P	SNHL S-P	472	Connexin 26 mutations	Mother Father Brother	418 NT 412	− − +	− NT −

KCNQ1^a c.1590+1G>A p.Gln530sp	4	F(L)	SNHL P	None	457		Mother Father Half-sister	436 398 479	− − −	+ − +

SCN5A ^a c.5872C>T p.Arg1958*	47	M(L)	SNHL P	SNHL P	456		Mother Father No sib	440 421	− −	+ −

See NCBI sequences NM_000218.2 for KCNQ1 and NM_198056 for SCN5A, for reference sequences.