A735G-F2

**Figure 1\. Pedigree diagram for family A735G\-F2\.**

![](/media/202607/A735G-F2-pedigree_20260701022658280215.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 | 735 | m.735A\>G | A735G\-F2 | 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 |

The **m.735A\>G** variant in MT\-RNR1 was reported in family A735G\-F2 from Tunisia with congenital profound syndromic deafness with neurodevelopmental delay/tetraplegia/leukodystrophy and novel mt\-rnr1 m.735a\>g. The pedigree record reported 2 unaffected and 1 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 1/3 listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was congenital profound syndromic deafness with neurodevelopmental delay, progressive tetraplegia, and leukodystrophy on mri..

# 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\-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. |  |
| 2 | 735 | m.735A\>G | A735G\-F2 | A735G\-F2\-III2 | Fam | M | N | N | A | ND | 0 | / | / | / | Healthy | open symbol in Fig. 1 |
| 3 | 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 |

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