G7444A-F9

**Figure 1\. Pedigree diagram for family G7444A\-F9\.**

![](/media/202606/20260626163955328374.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\-F9 | Chinese | Aminoglycoside\-induced and nonsyndromic hearing loss | 10 | 10 | 2005 | [16152638](https://pubmed.ncbi.nlm.nih.gov/16152638/) | Carrying m.1555A\>G |

The **m.7444G\>A** variant in MT\-CO1 was reported in family G7444A\-F9 from Chinese with aminoglycoside\-induced and nonsyndromic hearing loss. The pedigree record reported 10 unaffected and 10 affected maternal relatives, and the carrier table includes 20 listed carriers. Homoplasmy was reported in all listed carriers; 10/20 carriers were affected, and the main clinical manifestation among affected carriers was moderate hearing impairment, onset 27y, pta 67, 55 db, severe hearing impairment, onset 8y, pta 90, 90 db.

# 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\-F9 | G7444A\-F9\-I\-2 | Uninf | F | N | N | A | 72 | Homo | / | / | / | Normal hearing; PTA 25/26 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 2 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-II\-4 | Fam | F | N | Y | A | 49 | Homo | / | / | / | Moderate hearing impairment; onset 27y; PTA 67/55 dB | Aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 3 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-II\-6 | Fam | F | N | N | A | 47 | Homo | / | / | / | Normal hearing; PTA 17/10 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 4 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-II\-8 | Fam | F | N | N | A | 44 | Homo | / | / | / | Normal hearing; PTA 15/17 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 5 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-II\-9 | Fam | M | N | Y | A | 41 | Homo | / | / | / | Severe hearing impairment; onset 8y; PTA 90/90 dB | Aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 6 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-II\-11 | Fam | M | N | Y | A | 41 | Homo | / | / | / | Mild hearing impairment; PTA 28/28 dB | Noise exposure reported; no aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 7 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-II\-13 | Fam | M | N | Y | A | 38 | Homo | / | / | / | Profound hearing impairment; onset 2y; PTA 110/110 dB | Aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 8 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-II\-14 | Fam | M | N | Y | A | 31 | Homo | / | / | / | Profound hearing impairment; onset 3y; PTA 93/98 dB | Aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 9 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-3 | Fam | F | Y | Y | A | 26 | Homo | / | / | / | Profound bilateral hearing impairment; onset 1y; PTA 108/97 dB | Proband; gentamicin exposure at age 1; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 10 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-4 | Fam | F | N | Y | A | 21 | Homo | / | / | / | Profound hearing impairment; onset 1y; PTA 100/100 dB | Aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 11 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-5 | Fam | M | N | Y | A | 19 | Homo | / | / | / | Profound hearing impairment; onset 1y; PTA 105/100 dB | Aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 12 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-6 | Fam | M | N | Y | A | 17 | Homo | / | / | / | Mild hearing impairment; onset 3y; PTA 27/28 dB | Aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 13 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-7 | Fam | M | N | Y | A | 24 | Homo | / | / | / | Profound hearing impairment; onset 2y; PTA 87/95 dB | Aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 14 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-8 | Fam | M | N | N | A | 19 | Homo | / | / | / | Normal hearing; PTA 17/20 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 15 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-9 | Fam | F | N | N | A | 21 | Homo | / | / | / | Normal hearing; PTA 15/15 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 16 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-10 | Fam | M | N | N | A | 18 | Homo | / | / | / | Normal hearing; PTA 13/18 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 17 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-11 | Fam | F | N | N | A | 18 | Homo | / | / | / | Normal hearing; PTA 12/5 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 18 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-13 | Fam | F | N | N | A | 19 | Homo | / | / | / | Normal hearing; PTA 0/5 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 19 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-14 | Fam | M | N | N | A | 15 | Homo | / | / | / | Normal hearing; PTA 10/7 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |
| 20 | 7444 | m.7444G\>A | G7444A\-F9 | G7444A\-F9\-III\-15 | Fam | M | N | N | A | 8 | Homo | / | / | / | Normal hearing; PTA 5/10 dB | No aminoglycoside exposure; A1555G coexists; blood homoplasmy reported in matrilineal relatives. |

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