T5628C

# **General Information**

| **Position** | **5628** | **Variant** | **m.5628T\>C** | **Locus** | **MT\-TA** | **RNA** | **tRNA Ala** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \- | **Heteroplasmy** | \+ | **mitoTIP** | 78\.90% | **Pathogenicity** | Reported |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.5628T\>C** variant in MT\-TA has been reported in 4 pedigrees. To date, 9 carriers have been reported. Homoplasmy was reported in 2/9 carriers (22\.2%), and 4/9 carriers (44\.4%) were affected. In one affected carrier, a marked tissue\-specific difference was observed, with higher mutation loads in muscle (40%) than in blood (10%). The main clinical manifestations among affected carriers included bilateral ptosis, bilateral sensorineural hearing loss, chronic progressive external ophthalmoplegia, essential hypertension, dysphagia, ophthalmoplegia, and proximal myopathy.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 5628 | m.5628T\>C |[ T5628C\-F1](https://mitofam.com/doc/798/) | Italy | CPEO | 5 | 0 | 2001 | [11404121](https://pubmed.ncbi.nlm.nih.gov/11404121/) |  |
| 2 | 5628 | m.5628T\>C | T5628C\-F2 | Brazil | CPEO | ND | ND | 2012 | [22743145](https://pubmed.ncbi.nlm.nih.gov/22743145/) | Carrying A8348G |
| 3 | 5628 | m.5628T\>C | T5628C\-F3 | China | Maternally inherited aminoglycoside\-induced and nonsyndromic sensorineural hearing loss | 51 | 14 | 2007 | [17434445](https://pubmed.ncbi.nlm.nih.gov/17434445/) |  |
| 4 | 5628 | m.5628T\>C | T5628C\-F4 | China | Maternally Inherited Essential Hypertension | 2 | 3 | 2016 | [26923935](https://pubmed.ncbi.nlm.nih.gov/26923935/) |  |

# **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 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-I2 | De novo | F | Y | Y | A | 62 | 10% | 40% | / | / | Chronic progressive external ophthalmoplegia, dysphagia, proximal myopathy |  |
| 2 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II1 | Uninf | F | N | N | A | ND | 40% | / | / | / | Healthy |  |
| 3 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II2 | Uninf | M | N | N | A | ND | 10% | / | / | / | Healthy |  |
| 4 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II3 | Uninf | M | N | N | A | ND | 3% | / | / | / | Healthy |  |
| 5 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II4 | Uninf | M | N | N | A | ND | / | / | / | / | Healthy |  |
| 6 | 5628 | m.5628T\>C | T5628C\-F1 | T5628C\-F1\-II5 | Uninf | F | N | N | A | ND | / | / | / | / | Healthy |  |
| 7 | 5628 | m.5628T\>C | T5628C\-F2 | T5628C\-F2\-P1 | Uninf | F | Y | Y | ND | 35 | / | 82% | / | / | Bilateral ptosis ,ophthalmoplegia | Carrying A8348G |
| 8 | 5628 | m.5628T\>C | T5628C\-F3 | T5628C\-F3\-IV11 | Fam | M | Y | Y | ND | 16 | Homo | / | / | / | Bilateral sensorineural hearing loss |  |
| 9 | 5628 | m.5628T\>C | T5628C\-F4 | T5628C\-F4\-II2 | Fam | F | Y | Y | A | ND | Homo | / | / | / | Essential hypertension |  |

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