Jagged-1 mutation analysis in Italian Alagille syndrome patients

Jagged1 (JAG1) mutation detection in an Australian Alagille syndrome population

“…mutation in Family 1 (1808+3A→G). This splicesite mutation has also been recently identified by Pilia et al [1999]. Figure 1 shows the location of the Jagged1 mutations relative to the structural domains of the JAG1 protein.…”

“…This mutation leads to an arginine to cysteine substitution (R184C) and also has been described by Krantz et al [1998] in an unrelated patient. In addition, Krantz et al [1998], Crosnier et al [1999], and Pilia et al [1999] all identified individuals with various amino acid substitutions at this arginine residue.…”

“…In previous studies, 131 intragenic mutations in Jagged1 have been reported from AGS-affected individuals [Li et al, 1997;Oda et al, 1997b;Krantz et al, 1998;Yuan et al, 1998;Crosnier et al, 1999;Pilia et al, 1999]. These include 42 small deletions, 28 small insertions, 60 point mutations, and one complex rearrangement.…”

Alagille syndrome: pathogenesis, diagnosis and management

“…Negative JAG1 findings can be expected in up to B40% of patients suspected to have ALGS, [52][53][54][55][56] but the pick-up rate depends very much on the strictness of the clinical criteria applied to the testing threshold in probands.…”

Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion

“…In some cases, the deletion of chromosome 20 can be detected by standard cytogenetic analysis [Byrne et al, 1986;Schnittger et al, 1989;Anad et al, 1990;Legius et al, 1990;Zhang et al, 1990;Teebi et al, 1992], while in others the deletion is submicroscopic [Rand et al, 1995;Oda et al, 1997;Pilia et al, 1999].…”