A case of familial hypercholesterolemia caused by homozygous deletion in the LDLR gene diagnosed by targeted next-generation sequencing

Figures & data

Figure 1. A. Xanthomas on elbow. B, C. Achilles tendon xanthomas on the heel. D. Xanthelasma palpebrum.

Table 1. Fasting Lipid profile of the patient (at presentation and at follow-up after 8 weeks on rosuvastatin 40 mg and ezetimibe 10 mg), her parents and her brother.

Normal values in mg/dL(mmol/L)	Father	Mother	Brother	Patient
				Presentation	Follow-up at 8 weeks
Total Cholesterol <200 (5.2)	261 (6.7)	232 (6.0)	221 (5.7)	680 (17.5)	711 (18.4)
LDL-C < 100 (2.5)	224 (5.8)	194 (5.0)	166 (4.2)	646 (16.7)	539 (13.9) (16% drop)
Triglycerides <150 (1.7)	115 (1.3)	70 (0.8)	140 (1.6)	163 (1.84)	100 (1.1)
HDL-C > 50 (1.2)	35 (0.9)	23 (0.6)	27 (0.7)	24 (0.62)	75 (1.93) (confirmed)
VLDL-C – Up to 30 (0.77)	23 (0.6)			32 (0.8)	20 (0.5)
Apolipoprotein A1 mg/dL Males: 107–177 Females: 107-205	125			71.9
Apolipoprotein B mg/dL Males: 60–138 Females: 52–129	140.5			375.5
ApoB:ApoA1 ratio (Males <0.69; Females <0.59)	1.12			5.22
Lipoprotein (a) (<20) mg/dL	1.7			60.5

Figure 2. Alignment snapshot of the LDLR gene. The deleted region (exon 9 and part of exon 10) are highlighted by a red box.