A3243G-F334

**Figure 1\. Pedigree diagram for family A3243G\-F334\.**

![](/media/202607/A3243G-F334-pedigree_20260701030641284014.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 | 3243 | m.3243A\>G | A3243G\-F334 | United Kingdom | MIDD with progressive sensorineural hearing loss; MELAS\-spectrum affected sibling | 0 | 2 | 2002 | [12080997](https://pubmed.ncbi.nlm.nih.gov/12080997/) | No pedigree figure; auditory figures only. Tissue and heteroplasmy load are not reported. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F334 from United Kingdom with midd with progressive sensorineural hearing loss; melas\-spectrum affected sibling. The pedigree record reported 0 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 3/3 carriers were affected, and the main clinical manifestation among affected carriers was midd with 15\-year iddm, gradually progressive bilateral sensorineural hearing loss, profound hearing loss requiring cochlear implantation, iddm from age 20, deafness from age 27, midd phenotype, stroke\-like episode at age 35, deaf and insulin\-dependent diabetic from age 33\.

# 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 | 3243 | m.3243A\>G | A3243G\-F334 | A3243G\-F334\-P1 | Fam | F | Y | Y | A | 42 | / | / | / | / | MIDD with 15\-year IDDM, gradually progressive bilateral sensorineural hearing loss, profound hearing loss requiring cochlear implantation | Patient DH; one of three siblings carrying the 3243 mtDNA point mutation in MTTL1; tissue/load not reported. |
| 2 | 3243 | m.3243A\>G | A3243G\-F334 | A3243G\-F334\-P2 | Fam | M | N | Y | A | ND | / | / | / | / | IDDM from age 20; Deafness from age 27; MIDD phenotype | One of three siblings carrying the 3243 mtDNA point mutation in MTTL1; tissue/load not reported. |
| 3 | 3243 | m.3243A\>G | A3243G\-F334 | A3243G\-F334\-P3 | Fam | M | N | Y | A | 35 | / | / | / | / | Stroke\-like episode at age 35; Deaf and insulin\-dependent diabetic from age 33; Complete MELAS presentation | One of three siblings carrying the 3243 mtDNA point mutation in MTTL1; tissue/load not reported. |

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