Table 1 Summary of 10 disorders with established high reliable causative variants.
Family | Initial Diagnosis | Final Diagnosis | Gene | Chr. | Position (−) | Position (+) | Ref./Mut. | Mutation Type | Inheritance Mode |
|---|---|---|---|---|---|---|---|---|---|
5-1 | 46,XY sex reversal | Disorder of Sex Development | NR5A1 | 9 | 127265357 | 127265357 | C/T | splicing | AD |
10-1 | Bardet-Biedl Syndrome | Bardet-Biedl Syndrome | TTC8(BBS8) | 14 | 89327564 | 89327564 | A/G | splicing | AR |
10-2 | No diagnosis | 3p Deletion Syndrome | CNV | 3 | 0 | 10349999 | — | CNV(loss) | De novo |
13 | No diagnosis (exclued the Anhidrotic Ectodermal Dysplasia) | Anhidrotic Ectodermal Dysplasia | EDA | X | 69176954 | 69176954 | A/C | missense | XLR |
21 | Membranoproliferative Glomerulonephritis | Congenital Nephrotic Syndrome | UPK3A | 22 | 45683310 | 45683311 | CT/- | frameshift_deletion | CHT |
22 | 45684998 | 45684998 | G/A | nonsense | |||||
22-1 | Peutz-Jeghers syndrome | Peutz-Jeghers syndrome | STK11 | 19 | 1219406 | 1219406 | C/A | missense | AD |
22-2 | Adenomatous Polyposis Coli | Adenomatous Polyposis Coli | APC | 5 | 112128143 | 112128143 | C/T | nonsense | AD |
24 | Mental Retadation with Seizures | Guanidinoacetate methyltransferase deficiency | GAMT | 19 | 1399922 | 1399922 | T/G | missense | AR |
28 | Retinitis Pigmentosa | Choroideremia | CHM | X | 85213886 | 85213886 | G/A | nonsense | XLR |
32 | No diagnosis | Machado-Joseph Disease | ATXN3 | 14 | 92537362 | 92537378 | — | SSR | AD |
