A547T-F1

**Figure 1\. Pedigree diagram for family A547T\-F1\.**

![](/media/202606/56049d93c826427abaae48983e30fd9e4356.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 547 | m.547A\>T | A547T\-F1 | UK | Progressive renal impairment, ESRD, CKD, tubulointerstitial kidney disease | 1 | 16 | 2017 | [28267784](https://pubmed.ncbi.nlm.nih.gov/28267784/) | Fig 1; no explicit proband; H\=17\-1; IV3 counted as target\-renal Affected\=N only. |

The **m.547A\>T** variant in MT\-CR was reported in family A547T\-F1 from UK with progressive renal impairment, esrd, ckd, tubulointerstitial kidney disease. The pedigree record reported 1 unaffected and 16 affected maternal relatives, and the carrier table includes 17 listed carriers. Homoplasmy was reported in all listed carriers; 17/17 carriers were affected, and the main clinical manifestation among affected carriers was esrd, tubulointerstitial kidney disease, ckd.

# 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 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-II5 | Fam | F | ND | Y | D | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 2 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III3 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 3 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III4 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 4 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III6 | Fam | F | ND | Y | D | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 5 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III8 | Fam | M | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 6 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III9 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 7 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III11 | Fam | F | ND | Y | D | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 8 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III12 | Fam | F | ND | Y | D | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 9 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-III14 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 10 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV1 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 11 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV2 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 12 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV4 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 13 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV5 | Fam | M | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 14 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV7 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 15 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV8 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 16 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV9 | Fam | F | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | CKD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |
| 17 | 547 | m.547A\>T | A547T\-F1 | A547T\-F1\-IV10 | Fam | M | ND | Y | A | ND | Homo | / | Homo | Saliva Homo; F Homo | ESRD, tubulointerstitial kidney disease | Muscle Homo reported for one unnamed patient only. |

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