A8344G-F57

**Figure 1\. Pedigree diagram for family A8344G\-F57\.**

![](/media/202607/A8344G-F57-pedigree_20260701024340048699.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 | 8344 | m.8344A\>G | A8344G\-F57 | Japanese | Diabetes with m.8344A\>G / MERRF\-spectrum disease | 1 | 5 | 1994 | [7882812](https://pubmed.ncbi.nlm.nih.gov/7882812/) | Seven mutation\-positive members were identified in a three\-generation maternal pedigree. Nonmutated relatives in Fig. 1/Fig. 2 were not entered as carriers. |

The **m.8344A\>G** variant in MT\-TK was reported in family A8344G\-F57 from Japanese with diabetes with m.8344a\>g / merrf\-spectrum disease. The pedigree record reported 1 unaffected and 5 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 0/7 listed carriers; 6/7 carriers were affected, and the main clinical manifestation among affected carriers was diabetes, neurosensory deafness, simple diabetic retinopathy, merrf with diabetes, hearing disturbance, optic atrophy, proximal weakness and atrophy, myoclonic seizures.

# 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 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-I1 | Uninf | F | N | Y | A | 65 | 12\.0% | / | / | / | diabetes, neurosensory deafness, simple diabetic retinopathy | Mother of proband; diabetes diagnosed at age 59; treated with sulfonylurea; MERRF symptoms absent.; Evidence: Fig. 1 and text: heteroplasmic tRNA Lys(8344\) mutation in peripheral lymphocytes; blood mutant load 12\.0%. |
| 2 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II1 | Fam | M | Y | Y | A | 43 | 27\.6% | / | / | / | MERRF with diabetes, hearing disturbance, optic atrophy, proximal weakness and atrophy, myoclonic seizures, ragged\-red fibers, simple diabetic retinopathy | Proband; diabetes diagnosed at 36, insulin from age 40; MERRF symptoms from age 41\.; Evidence: Fig. 1 and text: proband II\-1 heteroplasmic for A8344G; blood mutant load 27\.6%. |
| 3 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II2 | Fam | M | N | Y | A | 37 | 16\.9% | / | / | / | impaired glucose tolerance; no MERRF symptoms reported | Brother of proband; IGT diagnosed at age 24; insulin secretory capacity considered normal.; Evidence: Fig. 1 and text: brother II\-2 heteroplasmic for A8344G; blood mutant load 16\.9%. |
| 4 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II3 | Fam | F | N | Y | A | 34 | 18\.3% | / | / | / | ketosis\-prone IDDM and sensory hearing loss; no MERRF symptoms reported | Sister of proband; diabetes at 29, hearing loss at 31\.; Evidence: Fig. 1 and text: sister II\-3 heteroplasmic for A8344G; blood mutant load 18\.3%. |
| 5 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II4 | Fam | M | N | Y | A | 32 | 20\.2% | / | / | / | diabetic ketoacidosis / insulin\-dependent diabetes and mild sensory hearing loss | Brother of proband; diabetes onset at age 24\.; Evidence: Fig. 1 and text: brother II\-4 heteroplasmic for A8344G; blood mutant load 20\.2%. |
| 6 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-II5 | Fam | M | N | Y | A | 29 | 19\.6% | / | / | / | IDDM with recurrent diabetic ketoacidosis and sensory hearing loss | Brother of proband; diabetes at age 25, hearing loss at age 28\.; Evidence: Fig. 1 and text: brother II\-5 heteroplasmic for A8344G; blood mutant load 19\.6%. |
| 7 | 8344 | m.8344A\>G | A8344G\-F57 | A8344G\-F57\-III4 | Fam | F | N | N | A | 6 | / | / | / | / | Healthy | Niece of proband; normal glucose tolerance and no neurosensory deafness or MERRF symptoms reported; Fig. 1 marks her as mutation\-positive, but the numeric percentage is not readable in the supplied PDF text/image.; Evidence: Fig. 1 and Fig. 2/text: niece III\-4 heteroplasmic for A8344G. |

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