T10663C

# **General Information**

| **Position** | **10663** | **Variant** | **m.10663T\>C** | **Locus** | **MT\-ND4L** | **Amino\-AcidChange** | **V65A** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \- | **APOGEE2** | Likely\-pathogenic | **Pathogenicity** | Cfrm \[LP] |

"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.10663T\>C** variant in MT\-ND4L has been reported in 10 pedigrees. To date, 23 carriers have been reported. Homoplasmy was reported in 22/23 carriers (95\.7%), and 16/23 carriers (69\.6%) were affected. The main clinical manifestations among affected carriers included LHON, lHON\-like optic neuropathy, optic disk pallor, painless sudden bilateral optic neuropathy, rapid onset painless bilateral optic atrophy, subacute LHON, cecocentral scotoma, cecocentral scotoma OU, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 10663 | m.10663T\>C |[ T10663C\-F1](https://mitofam.com/doc/1179/) | Germany | LHON | 2 | 1 | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | Carrying T4216C, G13708A, G15257A |
| 2 | 10663 | m.10663T\>C | T10663C\-F2 | United States | LHON | ND | ND | 1995 | [8680405](https://pubmed.ncbi.nlm.nih.gov/8680405/) | Carrying G5244A |
| 3 | 10663 | m.10663T\>C | T10663C\-F3 | Russia | LHON | ND | ND | 2002 | [11935318](https://pubmed.ncbi.nlm.nih.gov/11935318/) |  |
| 4 | 10663 | m.10663T\>C | T10663C\-F4 | Saudi Arabia | LHON\-like optic neuropathy | ND | ND | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) | Carrying T4216C, G13708A |
| 5 | 10663 | m.10663T\>C | T10663C\-F5 | Saudi Arabia | LHON\-like optic neuropathy | ND | ND | 2006 | [17003408](https://pubmed.ncbi.nlm.nih.gov/17003408/) | Carrying T4216C, G13708A |
| 6 | 10663 | m.10663T\>C | T10663C\-F6 | Benin | LHON | ND | ND | 2012 | [22879922](https://pubmed.ncbi.nlm.nih.gov/22879922/) |  |
| 7 | 10663 | m.10663T\>C |[ T10663C\-F7 ](https://mitofam.com/doc/1180/)| Kuwait | LHON | 4 | 6 | 2014 | [24568867](https://pubmed.ncbi.nlm.nih.gov/24568867/) | Carrying T10609C; G4541A |
| 8 | 10663 | m.10663T\>C | T10663C\-F8 | Norway | LHON | ND | ND | 2017 | [29210930](https://pubmed.ncbi.nlm.nih.gov/29210930/) |  |
| 9 | 10663 | m.10663T\>C | T10663C\-F9 | Kazakhstan | LHON | ND | ND | 2019 | [31817256](https://pubmed.ncbi.nlm.nih.gov/31817256/) |  |
| 10 | 10663 | m.10663T\>C | T10663C\-F10 | India | LHON | ND | ND | 2022 | [36381806](https://pubmed.ncbi.nlm.nih.gov/36381806/) |  |

# **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 | 10663 | m.10663T\>C | T10663C\-F1 | T10663C\-F1\-I1 | Uninf | F | N | N | A | ND | Homo | / | / |  | Color blindness and fundus changes |  |
| 2 | 10663 | m.10663T\>C | T10663C\-F1 | T10663C\-F1\-Ⅱ1 | Fam | M | Y | Y | A | 15 | Homo | / | / |  | Rapid onset painless bilateral optic atrophy; central/cecocentral scotoma; optic disk pallor; telangiectasia/tortuous vessels | Carrying T4216C, G13708A, G15257A |
| 3 | 10663 | m.10663T\>C | T10663C\-F1 | T10663C\-F1\-II2 | Fam | M | N | N | A | ND | Homo | / | / |  | Healthy |  |
| 4 | 10663 | m.10663T\>C | T10663C\-F1 | T10663C\-F1\-II3 | Fam | ND | N | N | ND | ND | Homo | / | / |  | Healthy |  |
| 5 | 10663 | m.10663T\>C | T10663C\-F2 | T10663C\-F2\-P1 | Uninf | M | Y | Y | A | ND | Homo | / | / |  | LHON | Carrying G5244A |
| 6 | 10663 | m.10663T\>C | T10663C\-F3 | T10663C\-F3\-P1 | Uninf | M | Y | Y | A | 18 | / | / | / | Homo (Other tissues) | Painless sudden bilateral optic neuropathy; central scotoma; optic disk pallor |  |
| 7 | 10663 | m.10663T\>C | T10663C\-F4 | T10663C\-F4\-P1 | Fam | M | Y | Y | A | 21 | Homo | / | / | / | LHON\-like optic neuropathy; central scotoma OU | Carrying T4216C, G13708A |
| 8 | 10663 | m.10663T\>C | T10663C\-F5 | T10663C\-F5\-P1 | Fam | M | Y | Y | A | 18 | Homo | / | / | / | LHON\-like optic neuropathy; cecocentral scotoma OU | Carrying T4216C, G13708A |
| 9 | 10663 | m.10663T\>C | T10663C\-F6 | T10663C\-F6\-P1 | Uninf | ND | Y | Y | ND | ND | Homo | / | / | / | LHON |  |
| 10 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-V1 | Fam | M | N | Y | A | 24 | Homo | / | / | / | LHON | Carrying T10609C |
| 11 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-V2 | Fam | M | N | N | A | 33 | Homo | / | / | / | Healthy | Carrying T10609C; G4541A |
| 12 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-V7 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T10609C; G4541A |
| 13 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-V9 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T10609C |
| 14 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-VI20 | Fam | M | N | Y | A | 12 | Homo | / | / | / | LHON | Carrying T10609C |
| 15 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-VI19 | Fam | M | N | Y | A | 14 | Homo | / | / | / | LHON | Carrying T10609C; G4541A |
| 16 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-VI18 | Fam | M | N | Y | A | ND | Homo | / | / | / | LHON | Carrying T10609C |
| 17 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-VI17 | Fam | M | N | Y | A | 22 | Homo | / | / | / | LHON | Carrying T10609C |
| 18 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-VI16 | Fam | F | N | N | A | ND | Homo | / | / | / | Healthy | Carrying T10609C |
| 19 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-VI10 | Fam | M | N | Y | A | 18 | Homo | / | / | / | LHON | Carrying T10609C |
| 20 | 10663 | m.10663T\>C | T10663C\-F7 | T10663C\-F7\-VI9 | Fam | M | Y | Y | A | 15 | Homo | / | / | / | LHON | Carrying T10609C |
| 21 | 10663 | m.10663T\>C | T10663C\-F8 | T10663C\-F8\-P1 | Uninf | M | Y | Y | A | 16 | / | / | / | Homo (Other tissues) | LHON |  |
| 22 | 10663 | m.10663T\>C | T10663C\-F9 | T10663C\-F9\-P1 | Uninf | ND | Y | Y | ND | ND | / | / | / | / | LHON |  |
| 23 | 10663 | m.10663T\>C | T10663C\-F10 | T10663C\-F10\-P1 | Uninf | M | Y | Y | A | 23 | / | / | / | Homo (Specimen) | Subacute LHON; sequential bilateral vision loss; optic nerve atrophy; optic nerve head pallor; retrobulbar neuritis; headaches |  |

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