A3260G-F4

**Figure 1\. Pedigree diagram for family A3260G\-F4\.**

![](/media/202606/20260630203503904594.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3260 | m.3260A\>G | A3260G\-F4 | Italy | MELAS, cardiomyopathy, rhabdomyolysis, autism | 18 | 8 | 2010 | [20965148](https://pubmed.ncbi.nlm.nih.gov/20965148/) |  |

The m.3260A\>G variant in MT\-TL1 was reported in family A3260G\-F4 from Italy with melas, cardiomyopathy, rhabdomyolysis, autism. The pedigree record reported 18 unaffected and 8 affected maternal relatives, and the carrier table includes 27 listed carriers. Homoplasmy was reported in 0/27 listed carriers; 19/27 carriers were affected, and the main clinical manifestation among affected carriers was migraine, short stature, stroke, fatigue, exercise intolerance, seizures, constipation, gerd.

# 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 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-I1 | Uninf | F | N | Y | D | ND | / | / | / | / | Migraine, short stature |  |
| 2 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-II1 | Fam | F | N | Y | D | ND | / | / | / | / | Migraine, short stature |  |
| 3 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-III1 | Fam | F | N | Y | D | ND | / | / | / | / | Migraine |  |
| 4 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-III2 | Fam | M | N | Y | D | ND | / | / | / | / | MELAS, cardiomyopathy, rhabdomyolysis, autism |  |
| 5 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-III3 | Fam | F | N | Y | A | ND | / | / | / | / | Migraine, short stature |  |
| 6 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV1 | Fam | M | N | Y | A | ND | / | / | / | / | Migraine, short stature |  |
| 7 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV2 | Fam | F | N | Y | D | 47 | 22% | 86% | / | / | Stroke, fatigue, exercise intolerance, seizures,constipation/GERD, migraine, short stature |  |
| 8 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV3 | Fam | M | N | Y | A | 46 | / | / | / | / | Simple headache, short stature |  |
| 9 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV4 | Fam | M | N | Y | A | 45 | 32% | 84% | / | / | Exercise intolerance, migraine, short stature |  |
| 10 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV5 | Fam | F | N | Y | A | 45 | 11% | 81% | / | / | Stroke, fatigue, exercise intolerance, constipation/GERD, migraine, short stature |  |
| 11 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV6 | Fam | F | N | N | A | 43 | / | 40% | / | / | Simple headache, short stature |  |
| 12 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV7 | Fam | F | N | N | A | 42 | \<5% | / | / | / | Simple headache |  |
| 13 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV8 | Fam | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 14 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV9 | Fam | F | N | Y | A | 41 | 15% | / | / | / | Neuropathy, migraine, short stature |  |
| 15 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-IV10 | Fam | F | N | Y | A | 32 | 27% | / | / | / | Exercise intolerance, neuropathy, short stature |  |
| 16 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V1 | Fam | F | N | Y | A | 21 | 55% | / | / | / | fatigue, exercise intolerance, simple headache, short stature |  |
| 17 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V2 | Fam | F | Y | Y | A | 20 | 48% | / | / | / | Stroke, fatigue, exercise intolerance, seizures, cardiomyopathy, neuropathy, migraine, short stature |  |
| 18 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V3 | Fam | F | N | Y | A | 17 | 60% | / | / | / | Fatigue, exercise intolerance, seizures, constipation/GERD, migraine, short stature |  |
| 19 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V4 | Fam | M | N | Y | A | 17 | \<5% | / | / | / | Exercise intolerance, short stature |  |
| 20 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V5 | Fam | F | N | Y | A | 14 | 17% | / | / | / | Exercise intolerance, simple headache. short stature |  |
| 21 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V6 | Fam | F | N | N | A | 9 | / | / | / | / | Healthy |  |
| 22 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V7 | Fam | M | N | N | A | ND | / | / | / | / | Simple headache |  |
| 23 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V8 | Fam | M | N | N | A | ND | / | / | / | / | Simple headache |  |
| 24 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V9 | Fam | M | N | N | A | 10 | / | / | / | / | Healthy |  |
| 25 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V10 | Fam | F | N | N | A | 7 | / | / | / | / | Healthy |  |
| 26 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V11 | Fam | M | N | Y | A | 5 | 4% | / | / | / | Autism |  |
| 27 | 3260 | m.3260A\>G | A3260G\-F4 | A3260G\-F4\-V12 | Fam | M | N | Y | A | 4 | 18% | / | / | / | Autism |  |

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