14800-DvRappard

146 Chapter 9 Table 1. Findings at gallbladder ultrasound. Patient ID MLD type Mutation 1 Mutation 2 Age at diagnosis (y) Age at HSCT (y) Age at US (y) Symptoms leading to US Ultrasound findings cDNA level Protein level cDNA level Protein level MLD-59 Late- infantile c.465+1G>A p.? c.465+1G>A p.? 1 no HSCT 2 No Sludge MLD-50 Late- infantile c.245C>T p.Pro82Leu c.1168C>T p.Arg390Trp 2 2 2 No Thickened wall MLD-57 Late- infantile c.112_1126del p.Leu375fs c.112_1126del p.Leu375fs 2 no HSCT 3 No Collapsed gallbladder, sludge MLD-45 Late- infantile c.459+1G>A p.? c.830_831delTCinsAA p.Ile277Lys 1 2 6 No Normal gallbladder MLD-16 Juvenile c.459+1G>A p.? c.536T>G p.Ile179Ser 1 (sib) 7 9 No Normal gallbladder MLD-37 Juvenile c.1073T>C p.Leu358Pro c.1277C>T p.Pro426Leu 2 2 12 No Thickened wall, sludge, possible polyps MLD-23 Juvenile c.1277C>T p.Pro426Leu Not found n/a 4 4 21 No Thickened wall MLD-4 Juvenile c.245C>T p.Pro82leu c.1144G>A p.Glu382Lys 4 4 13 No Normal gallbladder MLD-38 Juvenile c.582dup p.Trp195fs c.1277C>T p.Pro426Leu 5 no HSCT 6 Colic-like pain Thickened wall and sludge MLD-17 Juvenile c.1.1217_1255del9 p.Ser406_ Thr408del c.1277C>T p.Pro426Leu 6 no HSCT 7 Colic-like pain Thickened wall, collapsed gallbladder, sludge, cholelithiasis MLD-12 Juvenile c.634G>C p.Ala212Pro c.1277C>T p.Pro426Leu 6 no HSCT 13 Colic-like pain Sludge MLD-29 Juvenile c.1372C>T p. Gln548* c.1277C>T p.Pro426Leu 7 no HSCT 8 Colic-like pain Sludge MLD-39 Juvenile c.459+1G>A p.? c.1277C>T p.Pro426Leu 7 no HSCT 8 No Sludge MLD-5 Juvenile c.459+1G>A p.? c.1277C>T p.Pro426Leu 7 no HSCT 9 Vomiting Sludge MLD-10 Juvenile n/a n/a n/a n/a 7 no HSCT 12 No Sludge MLD-11 Juvenile n/a n/a n/a n/a 7 no HSCT 12 No Sludge