TABLE1.

Clinical characteristics of 12 patients (N,%) with CS.

N	1	2	3	4	5	6	7	8	9	10	11	12
Age	16 y	6 d	6 m	1 m	2 m	14 d	12 m	2 d	14 d	1 m	8 m	4 y
Gender	M	F	M	M	F	F	M	M	M	F	F	F
Abnormal prenatal care	—	+	+	+	+	+	+	+	+	—	+	+
Gestational age (week)	38	38 + 3	37 + 2	37 + 4	39	40 + 6	35 + 6	36 + 1	39 + 6	39 + 4	36 + 6	36 + 5
Birth weight (kg)	3.1	2.4	2.8	3	2.25	2.95	2.3	2.44	2.95	3.2	2.3	1.7
APACHE Ⅱ score (point)	0	7	8	15	15	16	12	19	18	12	15	2
RDS and pneumonia	—	+	+	+	+	+	+	+	+	+	+	+
Respiratory malformation	—	+	+	+	+	+	+	+	+	—	+	+
Cardiovascular malformation	—	+	—	+	+	+	+	+	+	+	+	+
Nervous system malformation	+	—	+	—	+	—	+	+	+	+	+	+
Developmental delay	+	—	+	—	+	—	+	—	—	+	+	+
External ear malformation	—	+	—	+	+	—	—	+	+	+	+	+
Hearing disorder	+	—	+	—	—	—	+	—	—	—	+	+
Inner ear malformation	+	—	—	—	—	—	—	—	—	—	—	—
Facial asymmetry	—	+	—	—	+	+	—	—	+	—	+	+
Coloboma	—	—	+	+	+	+	+	—	—	—	—	—
Choanal atresia	—	—	—	+	+	—	+	—	—	—	+
Digestive system abnormality	—	—	—	+	—	+	—	+	—	+	—	—
Urogenital abnormality	—	—	+	+	—	—	+	+	—	—	—	—
Endocrine abnormality	+	—	+	+	—	—	—	—	—	—	+	—
Limb deformities	+	—	—	—	—	—	—	—	—	—	+	—
Electrolyte disorder	—	+	—	+	—	+	—	+	+	+	—	—
Immune abnormality	—	—	+	+	—	—	—	—	—	—	—	—
Allergic history	—	—	—	+	—	+	—	—	—	—	—	—
Nucleotide and amino acid changes	c.253C > T (p.Q85*)	c.6018dup (p. S2007Ifs*2)	c.7012C > T (p.Q2338*)	c.6936 + 2T > C	c.7868delC (p.P2623Rfs*16)	c.5405-3C>G	c.7252C > T (p.R2418*)	c.8077-2A > G	c.6070C > T (p.R2024*)	c.4667dupC (p.R1557Kfs*16)	c.780del (p.S261Lfs*44)	c.5428C > T (p.R1810*)
Type of mutation	Nonsense	Frameshift	Nonsense	Splicing	Frameshift	Intron region	Nonsense	Splicing	Nonsense	Frameshift	Frameshift	Nonsense
Zygote type (heterozygote)	+	+	+	+	+	+	+	+	+	+	+	+
Inheritance (de novo)	+	+	+	+	+	+	+	+	+	+	+	+

M, male; F, female; y, years; d, days; m, months.