G7444A-F21

**Figure 1\. Pedigree diagram for family G7444A\-F21\.**

![](/media/202606/20260626164024688871.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 7444 | m.7444G\>A | G7444A\-F21 | Greek | Sensorineural hearing loss | 2 | 0 | 2011 | [21056478](https://pubmed.ncbi.nlm.nih.gov/21056478/) | heterozygous GJB2 c.35delG in three tested members |

The **m.7444G\>A** variant in MT\-CO1 was reported in family G7444A\-F21 from Greek with sensorineural hearing loss. The pedigree record reported 2 unaffected and 0 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in all listed carriers; 1/3 carriers were affected, and the main clinical manifestation among affected carriers was mild, moderate sensorineural hearing loss, onset 3y, pta 60, 30 db, speech delay, myopia, attention deficit and hyperactivity.

# 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 | 7444 | m.7444G\>A | G7444A\-F21 | G7444A\-F21\-III2 | Fam | M | Y | Y | A | 13 | Homo | / | / | / | Mild/moderate sensorineural hearing loss; onset 3y; PTA 60/30 dB; speech delay, myopia, attention deficit and hyperactivity | Blood homoplasmy; heterozygous GJB2 c.35delG also present. |
| 2 | 7444 | m.7444G\>A | G7444A\-F21 | G7444A\-F21\-III1 | Fam | M | N | N | A | 15 | Homo | / | / | / | Normal hearing; speech delay reported | Blood homoplasmy; heterozygous GJB2 c.35delG also present. |
| 3 | 7444 | m.7444G\>A | G7444A\-F21 | G7444A\-F21\-II3 | Uninf | F | N | N | A | 36 | Homo | / | / | / | Normal hearing; history of otosclerosis surgery | Blood homoplasmy; heterozygous GJB2 c.35delG also present. |

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