Table 2.
Eight patients who were received precision care after targeted next-generation sequencing.
| Patient No. | Sex/Age | Clinical Diagnosis before NGS Testing | Diagnosis after NGS Testing | Genes (Mode of Inheritance) |
Nucleotide Changes |
Amino Acid Changes | Management | Accession ID for Transcript |
|---|---|---|---|---|---|---|---|---|
| 6 | M/4.3 | IIN | CSNB | CACNA11 (XL) | c.1910+1G>A | - | Dual diagnosis | NM_005183.2 |
| FEVR | LRP51 (AD) | c.3833G>A | p.(Trp1278*) | Bone densitometry monitoring | NM_002335.2 | |||
| 11 | M/0.8 | Stickler syndrome | Stickler syndrome | COL2A11 (AD) | c.3165+1G>A | - | Prophylactic cryotherapy to prevent retinal detachment | NM_001844.4 |
| 12 | F/10.9 | Pierre-Robin sequence |
Stickler syndrome | COL2A11 (AD) | c.2680-3C>G | - | Prophylactic cryotherapy to prevent retinal detachment | NM_001844.4 |
| 38 | M/7.8 | Congenital cataract |
Hyperferritinemia-cataract syndrome | FTL1 (AD) | c.-168G>T | - | Avoid unnecessary phlebotomy or medical investigation | NM_000146.3 |
| 47 | M/5.1 | Ocular albinism | Xp22.33p22.2 deletion |
GPR1431 CLCN4, KAL1 NLGN4X, STS (XL) |
- | - | Hypotropic hypogonadism investigation | NM_000273.2 |
| 54 | F/4.8 | FEVR | FEVR | LRP51 (AD) | c.607G>A | p.(Asp203Asn) | Bone densitometry monitoring | NM_002335.2 |
| 73 | M/3.8 | Optic atrophy | Pyruvate dehydrogenase E1-α deficiency | PDHA11 (XL) | c.232G>A | p.(Ala78Thr) | Ketogenic diet Thiamine treatment |
NM_000322.4 |
| 90 | F/8.1 | Optic atrophy | 12p12.2p.12.1 Xp22.2p22.13 deletion |
SOX51 (AD) ABCC9 (AD) |
- | - | Regular monitoring of cardiac function |
NM_006940.4 NM_005691.3 |
AD, autosomal dominant; CSNB, congenital stationary night blindness; F, female; FEVR, familial exudative vitreoretinopathy; IIN, idiopathic infantile nystagmus; M, male; XL, X-linked. 1 Genes were associated with ophthalmological phenotypes.