G14600A-F1

**Figure 1\. Pedigree diagram for family G14600A\-F1\.**

![](/media/202606/20260630175728961158.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 14600 | m.14600G\>A | G14600A\-F1 | Italy | Leigh syndrome | 1 | 5 | 2007 | [17535832](https://pubmed.ncbi.nlm.nih.gov/17535832/) | Fig. 1B |

The **m.14600G\>A** variant in MT\-ND6 was reported in family G14600A\-F1 from Italy with leigh syndrome. The pedigree record reported 1 unaffected and 5 affected maternal relatives, and the carrier table includes 7 listed carriers. Homoplasmy was reported in 1/7 listed carriers; 6/7 carriers were affected, and the main clinical manifestation among affected carriers was leigh syndrome, sensory\-neural deafness, developmental delay, severe hypotonia, dystonia, ocular apraxia, lactic acidosis, basal nuclei and brainstem lesions.

# 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 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-III4 | Fam | F | Y | Y | D | 8 mo | / | Homo | / | Homo (F) | Leigh syndrome; sensory\-neural deafness; developmental delay; severe hypotonia; dystonia; ocular apraxia; lactic acidosis; basal nuclei and brainstem lesions; seizures; respiratory failure | Original label P2 |
| 2 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-II1 | Fam | F | N | Y | A | ND | 5% | / | / | 15% (F) | Subtle psychiatric symptoms |  |
| 3 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-II2 | Fam | F | N | Y | A | ND | 50% | / | / | / | Optic atrophy; mild cerebellar atrophy |  |
| 4 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-III2 | Fam | F | N | Y | D | ND | / | / | / | / | Progressive encephalopathy with MRI features consistent with Leigh syndrome |  |
| 5 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-III3 | Fam | F | N | Y | D | ND | / | / | / | / | Progressive encephalopathy with MRI features consistent with Leigh syndrome |  |
| 6 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-III1 | Fam | M | N | Y | D | ND | / | / | / | / | Progressive encephalopathy with MRI features consistent with Leigh syndrome |  |
| 7 | 14600 | m.14600G\>A | G14600A\-F1 | G14600A\-F1\-I1 | Fam | F | N | N | A | ND | 10% | / | / | / | Healthy |  |

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