A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.

ABSTRACT:

Background

Despite major advances in understanding the molecular basis of various genetic lipodystrophy syndromes, some rare patients still remain unexplained.

Cases

We report a novel autosomal recessive lipodystrophy affecting two sisters aged 17 and 19 years and characterised by early onset intellectual disability, and subsequent development of near-generalised loss of subcutaneous fat with diabetes mellitus, extreme hypertriglyceridemia, hepatic steatosis, short stature, clinodactyly, joint contractures, leiomyoma of uterus and cataracts in childhood. The lipodystrophy was more pronounced in the upper and lower extremities, and there was no associated muscular hypertrophy. Using whole exome sequencing in this consanguineous Hispanic pedigree, we report disease-causing hom

SUBMITTER: Patni N 

PROVIDER: S-EPMC8376205 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature