A4300G-F2

**Figure 1\. Pedigree diagram for family A4300G\-F2\.**

![](/media/202607/A4300G-F2-pedigree_20260701023110985803.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 | 4300 | m.4300A\>G | A4300G\-F2 | Italy | Hypertrophic cardiomyopathy | 21 | 13 | 1998 | [10065021](https://pubmed.ncbi.nlm.nih.gov/10065021/) | Carrying Arg249Gln(MHC) |

The **m.4300A\>G** variant in MT\-TI was reported in family A4300G\-F2 from Italy with hypertrophic cardiomyopathy. The pedigree record reported 21 unaffected and 13 affected maternal relatives, and the carrier table includes 40 listed carriers. Homoplasmy was reported in 0/40 listed carriers; 13/40 carriers were affected, and the main clinical manifestation among affected carriers was hypertrophic cardiomyopathy, congestive heart failure, hypomagnesaemia, pes cavus, left ventricular hypertrophy, stroke, persistent hypomagnesaemia, chronic renal failure after heart transplantation.

# 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 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-I2 | Uninf | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 2 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II2 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 3 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II3 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 4 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II4 | Fam | M | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 5 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II6 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy | Carrying Arg249Gln(MHC) |
| 6 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-II8 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 7 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III1 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy,congestive heart failure | Carrying Arg249Gln(MHC) |
| 8 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III3 | Fam | M | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy,congestive heart failure | Carrying Arg249Gln(MHC) |
| 9 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III5 | Fam | M | N | N | A | 70 | 65% | / | / | / | Right bundle branch block, left ventricular hypertrophy,hypertension, COPD | Carrying Arg249Gln(MHC) |
| 10 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III7 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy | Carrying Arg249Gln(MHC) |
| 11 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III9 | Fam | F | N | N | A | 55 | 70% | / | / | / | Pes cavus | Carrying Arg249Gln(MHC) |
| 12 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III11 | Fam | M | N | Y | A | 67 | 88% | / | / | / | Hypertrophic cardiomyopathy,hypomagnesaemia,pes cavus,left ventricular hypertrophy,stroke | Carrying Arg249Gln(MHC) |
| 13 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III12 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 14 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III14 | Fam | M | N | N | A | 62 | 58% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 15 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III15 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy | Carrying Arg249Gln(MHC) |
| 16 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-III17 | Fam | F | N | Y | D | ND | / | / | / | / | Hypertrophic cardiomyopathy | Carrying Arg249Gln(MHC) |
| 17 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV1 | Fam | M | N | Y | A | 46 | 90% | 82% | / | 95%(heart) | Hypertrophic cardiomyopathy,pes cavus,left ventricular hypertrophy,persistent hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 18 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV3 | Fam | M | N | N | A | 45 | 70% | / | / | / | Pes cavus | Carrying Arg249Gln(MHC) |
| 19 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV5 | Fam | M | N | Y | A | 42 | 92% | / | / | / | Hypertrophic cardiomyopathy,pes cavus,persistent hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 20 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV7 | Fam | F | N | N | A | 39 | 70% | / | / | / | Pes cavus,kidney malformation, transient amaurosis | Carrying Arg249Gln(MHC) |
| 21 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV9 | Fam | M | Y | Y | A | 44 | 95% | 85% | / | 98%(heart) | Hypertrophic cardiomyopathy,left ventricular hypertrophy,chronic renal failure after heart transplantation | Carrying Arg249Gln(MHC) |
| 22 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV11 | Fam | F | N | N | A | 36 | 65% | / | / | / | Pes cavus,incomplete right bundle branch block | Carrying Arg249Gln(MHC) |
| 23 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV13 | Fam | M | N | N | A | 36 | 50% | / | / | / | Pes cavus | Carrying Arg249Gln(MHC) |
| 24 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV15 | Fam | F | N | N | A | 31 | 55% | / | / | / | Pes cavus | Carrying Arg249Gln(MHC) |
| 25 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV17 | Fam | F | N | N | D | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 26 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV18 | Fam | M | N | Y | D | 58 | 62% | / | / | / | Hypertrophic cardiomyopathy,pes cavus,left ventricular hypertrophy,hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 27 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV19 | Fam | M | N | Y | A | 56 | 65% | / | / | / | Hypertrophic cardiomyopathy,pes cavus,gout,hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 28 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-IV20 | Fam | M | N | Y | A | 50 | 60% | / | / | / | Hypertrophic cardiomyopathy,pes cavus,left ventricular hypertrophy,mild hypertension,hypomagnesaemia | Carrying Arg249Gln(MHC) |
| 29 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V1 | Fam | M | N | N | A | 18 | / | / | / | / | Incomplete right bundle branch block | Carrying Arg249Gln(MHC) |
| 30 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V2 | Fam | F | N | N | A | 14 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 31 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V3 | Fam | M | N | N | A | 15 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 32 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V4 | Fam | M | N | N | A | 15 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 33 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V5 | Fam | M | N | N | A | 13 | / | / | / | / | Bilateral pes contortus | Carrying Arg249Gln(MHC) |
| 34 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V6 | Fam | F | N | N | A | 25 | 78% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 35 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V7 | Fam | M | N | N | A | 17 | 70% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 36 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V8 | Fam | M | N | N | A | 15 | 75% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 37 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V9 | Fam | M | N | N | A | ND | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 38 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V10 | Fam | F | N | N | A | 12 | / | / | / | / | Healthy | Carrying Arg249Gln(MHC) |
| 39 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V11 | Fam | M | N | N | A | 18 | 65% | / | / | / | Left renal cyst | Carrying Arg249Gln(MHC) |
| 40 | 4300 | m.4300A\>G | A4300G\-F2 | A4300G\-F2\-V12 | Fam | F | N | N | A | 10 | 70% | / | / | / | Healthy | Carrying Arg249Gln(MHC) |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).