Table V.
Secondary findings identified by whole-exome sequencing in six premature ovarian failure (POF) patients.
| Case ID | Gene | Transcript | Chr | Position (hg19) | rsID | Zygosity | cDNA | Protein | ClinVar accession | Associated phenotype | Variant involved in patient's phenotypea |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Case1 | SCN9A | NM_002977.3 | 2 | 167136962 | rs182650126 | Het | c.2215A>G | p.Ile739Val | SCV000191928.1 | Small fiber neuropathy | Not likely |
| Case1 | TMEM43 | NM_024334.2 | 3 | 14180731 | rs113449357 | Het | c.934C>T | p.Arg312Trp | SCV000051602.1 | Cardiomyopathy | Not likely |
| Case6 | SPINK1 | NM_003122.4 | 5 | 147207583 | rs148954387 | Het | c.194+2T>C | p.(-) | SCV000253884.1 | Hereditary pancreatitis | Likely |
| Case6 | NEBL | NM_006393.2 | 10 | 21157673 | rs137973321 | Het | c.604G>A | p.Gly202Arg | SCV000062382.3 | Cardiomyopathy | Uncertain significance |
| Case6 | MLH3 | NM_001040108.1 | 14 | 75514138 | rs28756990 | Het | c.2221G>T | p.Val741Phe | SCV000026082.1 | Endometrial carcinoma | Uncertain significance |
| Case6 | DSC2 | NM_004949.4 | 18 | 28672114 | rs144799937 | Het | c.304G>A | p.Glu102Lys | SCV000063116.3 | Cardiomyopathy | Uncertain significance |
| Case6 | GPR101 | NM_054021.1 | X | 136112910 | rs73637412 | Het | c.924G>C | p.Glu308Asp | SCV000203835.3 | Pituitary adenoma | Not likely |
| Case7 | CX3CR1 | NM_001171174.1 | 3 | 39307162 | rs3732378 | Het | c.839C>T | p.Thr280Met | SCV000028838.3 | Age-related macular degeneration | Likely |
| Case7 | JAK2 | NM_004972.3 | 9 | 5073770 | rs77375493 | Het | c.1849G>T | p.Val617Phe | NA | Thrombocythemia | Likely |
| Case7 | GPR101 | NM_054021.1 | X | 136112910 | rs73637412 | Het | c.924G>C | p.Glu308Asp | SCV000203835.3 | Pituitary adenoma | Not likely |
| Case8 | TNNC1 | NM_003280.2 | 3 | 52485426 | rs267607124 | Het | c.435C>A | p.Asp145Glu | SCV000209137.1 | Cardiomyopathy | Likely |
| Case8 | ANK2 | NM_001127493.1 | 4 | 114294462 | rs121912706 | Het | c.5434C>T | p.Arg1812Trp | SCV000223217.2 | Arrhythmia | Uncertain significance |
| Case10 | APOE | NM_000041.2 | 19 | 45412079 | rs7412 | Het | c.526C>T | p.Arg176Cys | NA | Hyperlipoproteinemia | Likely |
| Case13 | BCO1 | NM_017429.2 | 16 | 81298282 | rs119478057 | Het | c.509C>T | p.Thr170Met | SCV000025214.2 | Hypercarotenemia and vitamin A deficiency | Likely |
All data is available upon request. het, heterozygous; NA, not available.
aInvolvement of the variant on comorbid phenotypic features (not in POF syndrome) based on anamnestic data.