Paediatric or syndromic cardiomyopathy

Gene: MT-TI

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 3:01 p.m. | Last Modified: 26 Sep 2024, 3:01 p.m.

Panel Version: 5.12

Mode of inheritance
MITOCHONDRIAL

Green List (high evidence)

Comment on list classification: There are at least three unrelated cases reported with infantile-onset/ paediatric-onset cardiomyopathy and hence this gene can be promoted to green rating in the next GMS update.

Created: 28 May 2024, 7:44 a.m. | Last Modified: 28 May 2024, 7:44 a.m.

Panel Version: 4.6

PMID:12767666 reported two families with familial hypertrophic cardiomyopathy (HCM), where homoplasmic m.4300A>G variant was identified in the tested patients. The proband from family 1 was reported with left ventricular hypertrophy at 11 months of age, while proband from family 2 was diagnosed with nonobstructive idiopathic HCM at 20 years of age.

PMID:23332932 described morphological, biochemical, and molecular features of hearts from 3 transplanted patients from 2 families that were reported previously in PMID:12767666 and PMID:21945886 (2x m.4300A>G, 1x m.4277C>T) with HCM. The age of diagnosis of the patient from PMID:21945886 was 12 years, who showed progressive hearing impairment at the age of 2 years.

PMID:29481798 reported a Tunisian family with healthy parents and five children with clinical features suggestive of dilated cardiomyopathy (DCM). Two of the patients had severe phenotype and the age of diagnosis was one month and at birth for these patients and died at 40 days and 7 days respectively. The other three patients died at early age without diagnosis. The homoplasmic m.4318-4322delC deletion variant was identified in the two patients and their month, while absent in other family members.

PMID:30025578 reported a study on 58 unrelated patients with HCM, where one family was reported with m.4300A>G variant.

Created: 28 May 2024, 7:38 a.m. | Last Modified: 28 May 2024, 7:38 a.m.

Panel Version: 4.3

Mode of inheritance
MITOCHONDRIAL

Phenotypes
familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333

Publications

• 12767666
• 21945886
• 23332932
• 29481798
• 30025578

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.

Created: 3 Dec 2019, 1:59 p.m. | Last Modified: 3 Dec 2019, 1:59 p.m.

Panel Version: 0.53