Nuclear Lamina Diseases

Question 1

EDMD (Emery-Driefuss Muscular Dystrophy)

Mode of inheritance, gene name, protein name, clinical presentation

Answer 1

Protein: Emerin, lamin
Gene: Emerin (EMD) X linked / LMNA (lamin A) non X-linked; point deletion, much smaller deletion than Hutchinson-Gilford progeria syndrome
Mode of inheritance: X linked recessive / non X linked - autosomal dominant (lamin can’t form dimers)
Clinical presentation: ~10 years old, toe walking, difficulty bending elbows, weakness/wasting of shoulder, upper arm, and calf muscles

Question 2

Hutchinson-Gilford Progeria Syndrome

Mode of inheritance, gene name, protein name, clinical presentation

Answer 2

Gene: Large deletion (150 BP) of LMNA
Protein: lamin
Clinical presentation: old looking children
Mode of inheritance: Autosomal dominant