Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

Table 1 Phenotypic and genotypic characteristics and the patients with LDLR mutations

Patient ID	Age (years)	Sex	Medical history^a	Family history^b	Peripheral signs of HC	TC (mg/dl)	LDL-C (mg/dl)	Type of LDLR Mutation
S2	52	F	CAD	CAD,HC	XL	503	418	c.1670C > G c.2289G > T^c
S3	53	F	None	HC,CVA	None	441	344	c.682G > C^d
S19	39	M	None	HC	None	419	325	c.1855 T > A^d
S23	43	M	DM,HT	None	None	353	261	c.1720C > A^d
S26	32	F	None	HC	None	236	151	c.682G > C^d

^aMedical problems other than hypercholesterolemia. ^bAffected first degree relatives. CAD coronary heart disease, CVA cerebrovascular accident, DM diabetes mellitus, HC hypercholesterolemia, HT hypertension, LDL-C LDL cholesterol, TC total cholesterol, XL xanthelesma
^cCompound heterozygous mutations/variants, ^dHeterozygous mutation

ISSN: 1476-511X