ATYPICAL PROGEROID SYNDROME

LMNA gene analysis

A spectrum of progeroid clinical features are seen in Atypical Progeroid Syndrome patients such as short stature, beaked nose, premature graying and partial alopecia, high-pitched voice, skin atrophy over the hands and feet, partial and generalized lipodystrophy with marked metabolic abnormalities, and mild skeletal anomalies such as mandibular hypoplasia and mild acroosteolysis  (Garg et al. 2009 J Clin Endocrinol Metab 94:4971-4983). Atypical Progeroid Syndrome is caused by heterozygous disease-causing variants in the LMNA gene.

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.