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| Cardiac arrhythmias - additional genes v2.3 | MLIP | Achchuthan Shanmugasundram edited their review of gene: MLIP: Changed phenotypes to: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138, Arrhythmia, HP:0011675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.3 | MLIP | Achchuthan Shanmugasundram Phenotypes for gene: MLIP were changed from Arrhythmia, HP:0011675 to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis, MIM# 620138; Arrhythmia, HP:0011675 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiac arrhythmias - additional genes v2.2 | MLIP |
Achchuthan Shanmugasundram gene: MLIP was added gene: MLIP was added to Cardiac arrhythmias - additional genes. Sources: Literature Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLIP were set to 26436652; 32719146; 33802236; 34581780; 34935254 Phenotypes for gene: MLIP were set to Arrhythmia, HP:0011675 Review for gene: MLIP was set to RED Added comment: Comment on classification of this gene: The rating for this gene should be added as RED, as the implication of this gene in cardiac arrhythmias was identified from biallelic variants from only one family (despite a mild ventricular dysfunction in another unrelated individual). However, this is well supported by results from functional studies from human tissue samples and mouse models. Five individuals from two different pedigrees carrying two different novel homozygous nonsense variants were reported with myopathy characterized by hyperCKemia and with absence of rhabdomyolysis. The age of onset of symptoms for the single patient from family 1 is 2.5 years. All four individuals (age ranges from 24 to 37) from family 2 (Amish ancestry) were reported either with Sinus arrhythmia or Sinus bradycardia and one of these individuals displayed left ventricular hypertrophy. It was also found that there is founder effect for this allele in the Amish population in the resident county of these individuals (PMID:34935254). Seven patients from six families carrying six different biallelic (either homozygous or compound heterozygous) variants in MLIP gene were presented with a consistent phenotype including mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase (CK) levels. The age of onset of symptoms ranged from 8 months to 7 years. However, mild left ventricular dysfunction was reported only in one patient, despite the presence of mild structural abnormalities in two other patients (PMID:34581780). The expression of MLIP was identified to be reduced in patients with dilated cardiomyopathy, as studied from LV samples from patients with terminal-stage heart failure. In addition, deletion of MLIP gene accelerated progress from hypertrophy to heart failure in several cardiomyopathy models and overexpression prevented pathologic remodelling and preserved cardiac function (PMID:26436652). MLIP has also been identified as a regulator of myoblast differentiation (PMID:33802236) and myonuclear positioning (PMID:32719146). Sources: Literature |
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