Table 2 De novo genomic changes in trio families with congenital cataract and congenital heart diseases
From: Clinical and genetic findings in patients with congenital cataract and heart diseases
Patient | Gender | Age | Ophthalmic Feature | Cardiac Feature | De novo CNVs* | De novo SNPs/Indels# | ||||
|---|---|---|---|---|---|---|---|---|---|---|
Changes | Length(kb) | Diseases | Changes | Disease | ||||||
P1 | Male | 6 years | Left eye developmental membranous cataract, bilateral vitreous opacity | Ventricular septal defect | 21q11.2-q22.3 dup | 146,608.368 | Down's syndrome | ND | NA | |
P2 | Male | 3 months | Bilateral congenital nuclear cataract | Atrial septal defects | 22q11.21 del | 685.775 | 22q deletion syndrome | ND | NA | |
P3 | Female | 2 months | Bilateral congenital cataract | Atrial septal defect, coronary sinus dilation, persistent left superior vena cava (PLSVC) | ND | ND | NA | GJA8 c.590C > T p.S197F | Cataract | |
P4 | Female | 6 months | Bilateral congenital coralliform cataract | Atrial septal defects | 10q11.21 del | 125.435 | NA | ND | NA | |
P5 | Female | 5 years | Bilateral developmental pulverulent cataract | Atrial septal defects | 17q21.2 dup | 201.614 | NA | PRAMEF12 c.1372C > G p.R458G | NA | |
LIPC c.317C > T p.A106V | Hepatic lipase deficiency (AR) | |||||||||
P6 | Female | 4 years | Bilateral congenital total cataract | Atrial septal defects | 13q12.13 dup | 197.14 | NA | ND | NA | |
P7 | Male | 5 months | bilateral Congenital total cataract | Left myocardial hypertrophy, atrial septal defects | 7q22.3 del | 339.764 | NA | ND | NA | |
P8 | Male | 2 months | Bilateral congenital cataract | Atrial septal defects | 4q34.3-q35.1 dup | 2000.726 | NA | POLG c.2669A > C p.D890A | Mitochondrial DNA depletion syndrome, progressive external ophthalmoplegia | |
P9 | Female | 1 year and 3 months | Bilateral perinuclear congenital cataract | Atrial septal defects | ND | ND | NA | MDN1 c.16697A > G p.Y5566C | NA | |
P10 | Female | 2 year and 3 months | Left eye congenital cataract | Atrial septal defects | ND | ND | NA | YIF1B NM_001039672 c.709G > A p.V237I | Kaya-Barakat-Masson syndrome, (AR) | |