Table 1.
Positive exome cases with pathogenic variants and secondary findings
| Case ID | Genes | OMIM | Mode of inheritance | Consanguineous marriage | Other affected individuals | Mutations | Zygosity | Genetic diagnosis |
|---|---|---|---|---|---|---|---|---|
| P1 | COL6A2 | 120240 | Autosomal recessive | Same village | No | c.2584C>T (p.Arg862Trp) (p.R862W) | Homozygous | Betdlem myopatdy 1 |
| P2 | COG5 | 613612 | Autosomal recessive | First-degree cousin marriage | 1 male sibling | hg19:chr7:107002545A>G; c.1052T>C; p.Leu351Pro | Homozygous | Congenital disorder of glycosylation, type IIi |
| P3 | SPG11 | 604360 | Autosomal recessive | First-degree cousin marriage | No | hg19:44925739; c.1699C>T; p.Gln567* | Homozygous | Spastic paraplegia 11, autosomal recessive |
| P4 | POMT1 | 607423 | Autosomal recessive | Second-degree cousin marriage | No | c.598G>C (p.Ala200Pro) (p.A200P) | Homozygous | Muscular dystrophydystroglycanopatdy (congenital with mental retardation), type B, 1 |
| P5 | LARP7 | 612026 | Autosomal recessive | First-degree cousin marriage | 1 female sibling (case 6) | NM_015454.1_c.802_1142 + 267del (p.Lys278*/c.832A>T) | Homozygous | Alazami syndrome |
| P6 | LARP7 | 612026 | Autosomal recessive | First-degree cousin marriage | 1 male sibling (case 5) | NM_015454.1_c.802_1142 + 267del (p.Lys278*/c.832A>T) | Homozygous | Alazami syndrome |
| P7 | THOC6 | 615403 | Autosomal recessive | First-degree cousin marriage | 1 male sibling (case 8) | Exon11: c.709delG; p.G237fs; chr16:3077179_AG>A | Homozygous | Beaulieu-Boycott-Innes syndrome |
| P8 | THOC6 | 615403 | Autosomal recessive | First-degree cousin marriage | 1 male sibling (case 7) | Exon11: c.709delG; p.G237fs; chr16:3077179_AG>A | Homozygous | Beaulieu-Boycott-Innes syndrome |
| P9 | NAGLU | 609701 | Autosomal recessive | First-degree cousin marriage | No | c.1694G>A (p.Arg565Gln) (p.R565Q) | Homozygous | Mucopolysaccharidosis type IIIB (Sanfilippo B) |
| P10 | KLHL7 | 611119 | Autosomal recessive | Third-degree cousin marriage | 1 male sibling (case 11) | Exon 8: c.C1051T; p.R351X | Homozygous | Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa |
| P11 | KLHL7 | 611119 | Autosomal recessive | Third-degree cousin marriage | 1 male sibling (case 10) | Exon 8: c.C1051T; p.R351X | Homozygous | Crisponi/CISS1-like phenotype associated with early-onset retinitis pigmentosa |
| P12 | VLDLR | 192977 | Autosomal recessive | Second-degree cousin marriage | 1 male sibling (case 13) | NM_001018056.1:c.1459G>T; p.Asp487Tyr | Homozygous | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
| P13 | VLDLR | 192977 | Autosomal recessive | Second-degree cousin marriage | 1 male sibling (case 12) | NM_001018056.1:c.1459G>; p.Asp487Tyr/ | Homozygous | Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
| P14 | TBCD | 604649 | Autosomal recessive | Same village | No | c.230A>G (p.His77Arg) (p.H77R) | Homozygous | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum |
| P15 | COG6 | 606977 | Autosomal recessive | First-degree cousin marriage | 1 female cousin | Exon8: c.G697A; p.Glu233Lys | Homozygous | Congenital disorder of glycosylation, type IIl |
| P16 | COG6 | 606977 | Autosomal recessive | First-degree cousin marriage | 1 female cousin | Exon8: c.G697A; p.Glu233Lys | Homozygous | Congenital disorder of glycosylation, type IIl |
| P17 | LAMA1 | 615960 | Autosomal recessive | Same village | 1 male sibling (case 18) | c.8192C>A (p.S2731*) (p.Ser2731Ter) | Homozygous | Poretti-Boltshauser Syndrome; PTBHS |
| P18 | LAMA1 | 615960 | Autosomal recessive | Same village | 1 male sibling (case 17) | c.8192C>A (p.S2731*) (p.Ser2731Ter) | Homozygous | Poretti-Boltshauser Syndrome; PTBHS |
| P19 | LARP7 | 612026 | Autosomal recessive | Second-degree cousin marriage | 2 male cousins | NM_001267039.1(LARP7):c.441del | Homozygous | Alazami syndrome |
| P20 | TPP1 | 607998 | Autosomal recessive | Second-degree cousin marriage | No | hg19:chr11:6639009T>C; c.230-2A>G;p.? | Homozygous | Ceroid Lipofuscinosis, Neuronal, 2; CLN2 |
| P21 | MASP1 | 600521 | Autosomal recessive | First-degree cousin marriage | No | hg19:chr3:186954244G>A; c.1415C>T; p.Thr472Ile hg19:chr3:186980508C>A; c.238G>T; p.Val80Leu |
Compound heterozygous | 3MC syndrome 1 |
| P22 | GPT2 | 138210 | Autosomal recessive | Second-degree cousin marriage | No | hg19:chr16:46960903G>A; c.1435G>A; p.Val479Met | Homozygous | Intellectual disability, autosomal recessive 49 |
| P23 | OCLN | 602876 | Autosomal recessive | First-degree cousin marriage | 1 male sibling (case 24) | hg19:chr5:68830667G>A; c.1037 + 1G>A | Homozygous | Pseudo-TORCH syndrome 1 |
| P24 | OCLN | 602876 | Autosomal recessive | First-degree cousin marriage | 1 male sibling (case 23) | hg19:chr5:68830667G>A; c.1037 + 1G>A | Homozygous | Pseudo-TORCH syndrome 1 |
| P25 | ACSL4 | 300157 | X-linked dominant | Same village | Mother | hg19:chrX:108926022G>T; c.455C>A; p.Thr152Asn | Hemizygous | Intellectual disability, X-linked 63 |