Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy

Table 3 Confirmed mutations of Patients

Pt No	Age at diagnosis	Consanguinity	Zygosity	ALMS1 mutations in clinical Alström
A	14 y	+	Homozygote	ALMS 1 gene
B_#¶	16 y	+	Homozygote	c.7911dup C (p. Asn2638Glnfs*24)
C^#¶	1 y	+	Homozygote	c.7911dup C (p. Asn2638Glnfs*24)
D^¶	3 y	+	Homozygote	c.7911dup C (p. Asn2638Glnfs*24)
E^¶	10 m	+	Homozygote	c.7911dup C (p. Asn2638Glnfs*24)
F^¶	1 m	+	Homozygote	c.7911dup C (p. Asn2638Glnfs*24)
G	10 y	+	Homozygote	c.7905-7906InsC (p. N2636Qfs*24)
H^#	3 m	+	Homozygote	c.7316C > A (p.Ser2439*)
J^#	1.5 m	+	Homozygote	c.7316C > A (p.Ser2439*)

ISSN: 1750-1172