A735G

# **General Information**

| **Position** | **735** | **Variant** | **m.735A\>G** | **Locus** | **MT\-RNR1** | **RNA** | **12S rRNA** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | nr | **Heteroplasmy** | nr | **mitoTIP** | N/A | **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.735A\>G** variant in MT\-RNR1 has been reported in 2 pedigrees. To date, 5 carriers have been reported. Homoplasmy was reported in 2/5 carriers (40%), and 3/5 carriers (60%) were affected. The main clinical manifestations among affected carriers included congenital profound nonsyndromic hearing loss., congenital profound syndromic deafness with neurodevelopmental delay, hearing loss, and leukodystrophy on MRI., and progressive tetraplegia.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 735 | m.735A\>G |[ A735G\-F1](https://mitofam.com/doc/1509/) | Tunisia | Congenital profound nonsyndromic hearing loss with novel MT\-RNR1 m.735A\>G | 0 | 2 | 2010 | [20055758](https://pubmed.ncbi.nlm.nih.gov/20055758/) | Family C |
| 2 | 735 | m.735A\>G | [A735G\-F2 ](https://mitofam.com/doc/1510/)| Tunisia | Congenital profound syndromic deafness with neurodevelopmental delay/tetraplegia/leukodystrophy and novel MT\-RNR1 m.735A\>G | 2 | 1 | 2010 | [20055758](https://pubmed.ncbi.nlm.nih.gov/20055758/) | Family K |

# **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 | 735 | m.735A\>G | A735G\-F1 | A735G\-F1\-III1 | De novo | M | Y | Y | A | ND | Homo | / | / | / | Congenital profound nonsyndromic hearing loss. |  |
| 2 | 735 | m.735A\>G | A735G\-F2 | A735G\-F2\-III1 | De novo | M | Y | Y | D | ND | Homo | / | / | / | Congenital profound syndromic deafness with neurodevelopmental delay, progressive tetraplegia, and leukodystrophy on MRI. |  |
| 3 | 735 | m.735A\>G | A735G\-F1 | A735G\-F1\-III2 | Fam | F | N | Y | A | ND | 0 | / | / | / | Hearing loss | specific phenotype not individualized; by Fig. 1 affected symbol |
| 4 | 735 | m.735A\>G | A735G\-F2 | A735G\-F2\-III2 | Fam | M | N | N | A | ND | 0 | / | / | / | Healthy | open symbol in Fig. 1 |
| 5 | 735 | m.735A\>G | A735G\-F2 | A735G\-F2\-III3 | Fam | F | N | ND | D | ND | 0 | / | / | / | ND | Affected/deceased by Fig. 1 symbol; specific phenotype not individualized |

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