Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

ABSTRACT: Imprinting disorders are rare diseases resulting from altered expression of imprinted genes, which exhibit parent-of-origin-specific expression patterns regulated through differential DNA methylation. A subgroup of patients with imprinting disorders have DNA methylation changes at multiple imprinted loci, a condition referred to as multi-locus imprinting disturbance (MLID). MLID is recognised in most but not all imprinting disorders and is also found in individuals with atypical clinical features; the presence of MLID often alters the management or prognosis of the affected person. Some cases of MLID are caused by trans-acting genetic variants, frequently not in the patients but their mothers, which have counselling implications. There is currently no consensus on the definition of MLID, c

SUBMITTER: Mackay DJG 

PROVIDER: S-EPMC11295890 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature