G3242A

# **General Information**

| **Position** | **3242** | **Variant** | **m.3242G\>A** | **Locus** | **MT\-TL1** | **RNA** | **tRNA Leu (UUR)** |
| --- | --- | --- | --- | --- | --- | --- | --- |
| **Homoplasmy** | \+ | **Heteroplasmy** | \+ | **mitoTIP** | Pathogenic | **Pathogenicity** | Cfrm \[LP] |

"Pathogenicity" status is derived from published literature or predictions from bioinformatics tools. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of these variants. For more information, please see [Mitofam Info](https://mitofam.com/doc/385/).

# **Pedigree Information**

The **m.3242G\>A** variant in MT\-TL1 has been reported in 2 pedigrees. To date, 3 carriers have been reported. Homoplasmy was reported in 2/3 carriers (66\.7%), and 3/3 carriers (100%) were affected. The main clinical manifestations among affected carriers included failure to thrive, generalized hypotonia, hypertrophic and dilated cardiomyopathy, respiratory failure, intrauterine growth retardation, motor development stagnation, seizure, absence of head control, and other features.

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 3242 | m.3242G\>A | G3242A\-F1 | Japan | Intrauterine growth retardation, poor sucking, tachypnea, anemia, generalized hypotonia, absence of head control, failure to thrive, respiratory failure, heart failure, renal failure, lactic acidosis, hypertrophic and dilated cardiomyopathy, diffuse cerebral atrophy | 0 | 0 | 2009 | [19460299](https://pubmed.ncbi.nlm.nih.gov/19460299/) |  |
| 2 | 3242 | m.3242G\>A | G3242A\-F2 | German | Motor development stagnation, generalized hypotonia, dysphagia, failure to thrive, hypertrophic and dilated cardiomyopathy, pericardial effusion, left ventricular decompensation, lipid myopathy, chronic renal insufficiency, renal tubular acidosis, electrolyte imbalance, short stature | ND | ND | 2012 | [22781753](https://pubmed.ncbi.nlm.nih.gov/22781753/) |  |

# **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 | 3242 | m.3242G\>A | G3242A\-F1 | G3242A\-F1\-II1 | De novo | F | Y | Y | A | 5 months | Homo | / | / | / | Intrauterine growth retardation, poor sucking, tachypnea, anemia, generalized hypotonia, absence of head control, failure to thrive, respiratory failure, heart failure, renal failure, lactic acidosis, hypertrophic and dilated cardiomyopathy, diffuse cerebral atrophy |  |
| 2 | 3242 | m.3242G\>A | G3242A\-F2 | G3242A\-F2\-P1 | Uninf | M | Y | Y | A | 5 months | / | Homo | / | Homo (F) | Motor development stagnation, generalized hypotonia, dysphagia, failure to thrive, hypertrophic and dilated cardiomyopathy, pericardial effusion, left ventricular decompensation, lipid myopathy, chronic renal insufficiency, renal tubular acidosis, electrolyte imbalance, short stature |  |
| 3 | 3242 | m.3242G\>A | G3242A\-F2 | G3242A\-F2\-P2 | De novo | F | Y | Y | D | 2\.5 | / | / | / | 49% (F) | Seizure, hypotonia, delayed motor/intellectual development, biventricular hypertrophy, impaired cardiac function, lethargy, hypoxemia, respiratory failure, bulbar dysfunction, cerebral/cerebellar atrophy, white matter abnormality |  |

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