Fig. 2

LAMB2 mutations in this and previously reported cases of Pierson syndrome. a Sequencing chromatograms of the father, mother and the patient are shown. The 5′ to 3′ ends of the transcripts are indicated in combination with each diagram. Vertical arrows indicate the position of mutations; exon14 (c.1648C > T:p.Arg550X) and exon 27 (c.4519C > T:p.Glu1507X), and mutated codons are underlined. b Pathogenic mutations associated with the neuromuscular symptoms of PS are mapped to the functional domains of Laminin β2 protein. Red arrows: nonsense and frame-shift mutations; Black arrows: missense mutations and in-frame deletions. LAMNT, laminin N-terminal globular domain; EGFLAM, laminin EGF-like modules; CC, laminin coiled coil domain