A608G-F1

**Figure 1\. Pedigree diagram for family A608G\-F1\.**

![](/media/202607/A608G-F1-pedigree_20260701022926201246.png#size=100%&align=left)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 608 | m.608A\>G | A608G\-F1 | Taiwan, China | Tubulointerstitial nephritis | 2 | 1 | 2001 | [11231339](https://pubmed.ncbi.nlm.nih.gov/11231339/) |  |

The **m.608A\>G** variant in MT\-TF was reported in family A608G\-F1 from Taiwan, China with tubulointerstitial nephritis. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 3/4 listed carriers; 2/4 carriers were affected, and the main clinical manifestation among affected carriers was chronic renal insufficiency, developmental delay, tubulointerstitial nephritis, muscle weakness, ataxia.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 608 | m.608A\>G | A608G\-F1 | A608G\-F1\-I2 | Uninf | F | N | N | A | ND | Homo | / | / | / | Healthy |  |
| 2 | 608 | m.608A\>G | A608G\-F1 | A608G\-F1\-II1 | Fam | F | N | N | D | 7 months | / | / | / | / | Died of herpetic encephalitis |  |
| 3 | 608 | m.608A\>G | A608G\-F1 | A608G\-F1\-II2 | Fam | M | Y | Y | A | 46 months | Homo | / | / | Homo (renal biopsy tissue) | Chronic renal insufficiency, developmental delay |  |
| 4 | 608 | m.608A\>G | A608G\-F1 | A608G\-F1\-II3 | Fam | M | N | Y | A | 27 months | Homo | / | / | Homo (renal biopsy tissue) | Chronic renal insufficiency, tubulointerstitial nephritis, muscle weakness, ataxia |  |

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