T2336C-F1

**Figure 1\. Pedigree diagram for family T2336C\-F1\.**

![](/media/202607/T2336C-F1-pedigree_20260701022851693996.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 | 2336 | m.2336T\>C | T2336C\-F1 | China | Hypertrophic cardiomyopathy with complete atrioventricular block | 1 | 3 | 2014 | 24367055; 30196098 |  |

The **m.2336T\>C** variant in MT\-RNR2 was reported in family T2336C\-F1 from China with hypertrophic cardiomyopathy with complete atrioventricular block. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in all listed carriers; 4/4 carriers were affected, and the main clinical manifestation among affected carriers was non\-obstructive hcm, complete av block, permanent pacemaker, onset age 45, hcm, atrial fibrillation and pacing, onset age 37, onset age 32\.

# 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 | 2336 | m.2336T\>C | T2336C\-F1 | T2336C\-F1\-II1 | Fam | F | N | Y | A | 59 | Homo | / | Homo | Homo (H); Homo (BM) | Non\-obstructive HCM; complete AV block; permanent pacemaker; onset age 45 |  |
| 2 | 2336 | m.2336T\>C | T2336C\-F1 | T2336C\-F1\-II3 | Fam | M | N | Y | A | 49 | Homo | / | Homo | Homo (H); Homo (BM) | HCM; complete AV block; atrial fibrillation and pacing; onset age 37 |  |
| 3 | 2336 | m.2336T\>C | T2336C\-F1 | T2336C\-F1\-III1 | Fam | M | N | Y | A | 38 | Homo | / | Homo | Homo (H); Homo (BM) | HCM; complete AV block; atrial fibrillation and pacing; onset age 32 |  |
| 4 | 2336 | m.2336T\>C | T2336C\-F1 | T2336C\-F1\-III3 | Fam | M | Y | Y | A | 32 | Homo | / | Homo | Homo (H); Homo (BM) | HCM; complete AV block; pacing; progression toward dilated cardiomyopathy and heart failure; onset age 29 |  |

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