Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia

Table 2 Clinical features of St. Petersburg patients recruited for search of mutations in the LDL receptor gene

Patients ID	Sex	Age	TC, mg/dl	TG, mg/dl	LDLC, mg/dl	HDLC, mg/dl	Xanthomas/Corneal arcus	CHD	CI	Mutation name	All exons sequencing
1	F	61	449	178	386	27	+	+	+	V776M	-
2	F	58	675	305	572	42	+	+	-	T705I	-
3	M	60	350	81	284	50	+	+	-	FsV409: S423X	-
4	F	49	326	203	248	37	-	+	-	-	-
5	F	36	414	201	321	53	+	-	-	V806I	-
6	M	68	404	192	333	33	+	+	-	-	-
7	F	76	522	161	444	46	-	-	-	-	-
8	F	54	446	165	353	60	-	-	-	-	-
9	F	52	500	ND	ND	ND	-	+	+	-	-
10	F	62	370	120	303	43	+	-	-	C308Y	-
11	F	66	359	141	300	31	-	+	-	-	-
12	F	66	486	296	391	36	-	+	+	Q12X	-
13	F	52	469	228	389	34	+	+	-	IVS9+1G>A	-
14	F	53	325	101	286	19	-	+	+	-	-
15	F	58	446	192	334	74	-	+	-	FsK202: S205X	-
16	F	38	398	260	314	32	+	-	-	FsE291: N309X	-
17	M	46	280	117	220	37	-	+	+	-	-
18	F	58	519	179	446	37	-	+	-	G197del	-
19	F	54	364	135	300	37	+	+	+	FsE287: V348X	-
20	F	53	204	233	135	23	-	+	+++	-	-
21	M	61	350	116	280	47	-	-	-	-	-
22	F	48	369	221	290	35	-	+	-	-	-
23	M	48	417	190	353	30	-	+	-	C249X	-
24	F	45	299	122	229	46	+	-	-	IVS3+1G>A	-
25	F	50	353	101	295	38	+	-	-	FsE414: M429X	-
26	F	45	558	210	478	38	+	+	+	-	-
27	M	62	469	136	398	44	+	+	++	G197del	+
28	F	8	915	179	850	29	+	-	-	-	+
29	F	40	367	73	283	69	-	+	-	W422X	+
30	F	60	480	104	393	66	-	-	-	-	+
31	M	41	314	247	226	39	-	+	+	-	+
32	M	37	344	292	262	24	+	+	+	-	+
33	F	52	360	744	179	32	+	+	+	-	+
34	M	40	312	70	258	40	+	+	++	-	+
35	M	29	253	79	195	42	-	-	-	E207X	+
36	M	38	520	168	447	39	+	+	+	D601N	+
37	F	19	447	156	362	54	-	-	-	L380H	+
38	F	63	347	84	266	64	+	+	+	C646S	+
39	F	56	432	106	374	37	+	+	-	W422X	+
40	M	47	540	226	446	49	+	+	+	IVS3+1G>A	+
41	F	70	433	123	370	38	-	+	+	-	+
42	M	34	534	ND	ND	ND	+	+	+	-	+
43	F	52	654	115	573	58	+	+	+	C308Y	+
44	M	52	356	334	260	29	-	+	+	-	+
45	M	52	360	169	287	39	+	+	+	FsV597: A622X	+

Footnote: TC – total blood serum cholesterol, TG – triglycerides, LDLC – low density lipoprotein cholesterol, HDLC – high density lipoprotein cholesterol, CHD – coronary heart disease, CI – coronary infarction. Pluses in the CI column indicate number of CI survived. Minus in the right column indicates that the patient's LDL receptor gene was studied by high-sensitive fluorescent SSCP-analysis and not by frontal sequencing of all LDL receptor gene exons; the latter condition is indicated by plus.

ISSN: 1471-2350