Table 2.

Patients with CCHS in Whom Heterozygous Missense or Frameshift Mutations of the PHOX2B Gene Were Identified

	Clinical Findingsa
Patient	CCHS	HSCR	NB	NucleotideVariation	Putative PHOX2B(aa)	Alanine Stretchb
O.61	+	+ (SS)	+ (NB)	422G→A	314 (R141Q)	P
O.82	+	+ (LS)	−	428A→G	314 (Q143R)	P
O.179	+	+ (LS)	−	606–607insA	358	A
S.253	+	+	+ (x NB)	618–619insC	358	A
O.188	?	?	?	692delG	307	A
O.110	+	+ (TCA)	+ (x NB)	693–700del8	355	A
O.185	+	−	?	689–696dup8	310	A
O.203	+	+ (TCA)	−	722del35	346	A
S.247	+	+	+ (NB)	722del38	345	A
O.123	+	+ (LS)	−	722del38	345	A
O.43	+	+	+ (x NB)	931del5	356	P
O.22	+	+ (TCA)	+ (GGB)	936insT	358	P
O.150	+	+ (SS)	?	945A→C	355	P

^a+ = presence; − = absence; ? = unknown; SS = short-segment HSCR; LS = long-segment HSCR; TCA = total colonic aganglionosis; NB = neuroblastoma; x = multiple; GGB = ganglioneuroblastoma.

^b20-alanine stretch in putative protein. P= present; A = absent.