Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene

Figures & data

Figure 1 Family pedigree. Black symbols indicates affected individuals; open symbols indicates unaffected individuals; square indicates male; circle indicates female; arrow indicates proband.

Table 1 Clinical Findings of Patients with TSC

Patient No.	Age (Years)/Sex	Facial Angiofibroma	Shagreen Patch	Hypopigmented Macules	Seizures (Seizure Type)	Subependymal Nodules
I2	80Y/Female	+	−	+	+(GTCS)	–
II1	56Y/Female	+	+	+	−	–
II3	50Y/Female	+	+	−	+(GTCS)	–
III3	24Y/Male	+	+	+	+(GTCS)	+
III5	14Y/Female	+	+	+	+(Absence seizure)	–

Figure 2 Clinical manifestations of proband. (A) Facial angiofibroma. (B) Shagreen patch. (C) Hypopigmented macules. (D) Subependymal nodules.

Table 2 Statistical Results of Sample Sequencing Data

Sample Name	≥Q20 Bases	Mean Read Length	Mapped Reads	On Target	Mean Depth	Uniformity
ZCM (II3)	5,867,129,516	160 bp	46,930,722	94.21%	119.6	89.42%
YGB (II4)	6,339,207,974	177 bp	45,012,887	93.81%	127.1	86.37%
YYG (III3)	6,989,895,407	183 bp	46,273,987	92.67%	133.8	85.48%
YCH (III4)	4,923,435,924	161 bp	38,868,380	94.25%	99.49	88.98%
YMY (III5)	7,332,794,772	182 bp	48,862,353	92.73%	141.1	88.20%

Figure 3 The splicing site mutation in the 9th intron region of TSC1 (c.913+2T>G).