A3243G-F123

**Figure 1\. Pedigree diagram for family A3243G\-F123\.**

![](/media/202607/A3243G-F123-pedigree_20260701024955572378.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\-F123 | France | Maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure and sensorineural deafness | 1 | 13 | 1995 | [7473662](https://pubmed.ncbi.nlm.nih.gov/7473662/) | Four\-generation French pedigree; individual molecular rows come from Fig. 2 and text. |

The **m.3243A\>G** variant in the mitochondrial locus was reported in family A3243G\-F123 from France with maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure and sensorineural deafness. The pedigree record reported 1 unaffected and 13 affected maternal relatives, and the carrier table includes 15 listed carriers. Homoplasmy was reported in 0/15 listed carriers; 6/15 carriers were affected, and the main clinical manifestation among affected carriers was sensorineural hearing loss, diabetes mellitus from age 36, severe concentric hypertrophic cardiomyopathy at 44, migraine\-like headaches, general weakness, affected maternal relative., ataxia and cerebellar atrophy are reported for one generation iii subject in the family text, hypothalamic hypocorticism is reported for iii\-37\.

# 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\-F123 | A3243G\-F123\-II6 | Fam | ND | N | ND | ND | ND | 40% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 2 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-II7 | Fam | ND | N | ND | ND | ND | 11% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 3 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-II9 | Fam | ND | N | ND | ND | ND | 11% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 4 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III13 | Fam | M | Y | Y | ND | ND | 31% | / | / | / | Sensorineural hearing loss; Diabetes mellitus from age 36; Severe concentric hypertrophic cardiomyopathy at 44; Migraine\-like headaches; General weakness | Referred patient/proband; A3243G was shown in skeletal muscle and leukocytes; Fig. 2 gives leukocyte/blood load 31%. |
| 5 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III16 | Fam | ND | N | Y | ND | ND | / | / | / | / | Affected maternal relative. | Text lists III\-16 as A3243G\-positive in circulating leukocytes; Fig. 2 percent is nd; Affected maternal relative |
| 6 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III18 | Fam | ND | N | Y | ND | ND | / | / | / | / | Affected maternal relative. | Text lists III\-18 as A3243G\-positive in circulating leukocytes; Fig. 2 percent is nd; Affected maternal relative |
| 7 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III23 | Fam | ND | N | ND | ND | ND | 27% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 8 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III25 | Fam | ND | N | N | ND | ND | 0 | / | / | / | Healthy | Negative\-tested maternal\-line record; only blood/leukocytes tested; Unaffected obligate carrier; A3243G not detected in circulating leukocytes |
| 9 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III26 | Fam | ND | N | Y | ND | ND | 24% | / | / | / | Ataxia and cerebellar atrophy are reported for one generation III subject in the family text | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative |
| 10 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III36 | Fam | ND | N | ND | ND | ND | 26% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 11 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III37 | Fam | ND | N | Y | ND | ND | 56% | / | / | / | Hypothalamic hypocorticism is reported for III\-37 | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative |
| 12 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-III38 | Fam | ND | N | ND | ND | ND | 83% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 13 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-IV42 | Fam | ND | N | Y | ND | 18 months onset | 75% | / | / | / | Recurrent pallor attacks from 18 months; No abnormal movements or mental retardation reported | Fig. 2 lymphocyte/blood A3243G load. |
| 14 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-IV43 | Fam | ND | N | ND | ND | ND | 40% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |
| 15 | 3243 | m.3243A\>G | A3243G\-F123 | A3243G\-F123\-IV44 | Fam | ND | N | ND | ND | ND | 80% | / | / | / | ND | Fig. 2 lymphocyte/blood A3243G load; Affected maternal relative; exact features coded in pedigree |

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