TY - JOUR
T1 - Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome
AU - Onouchi, Yoshihiro
AU - Kurahashi, Hiroki
AU - Tajiri, Hitoshi
AU - Ida, Shinobu
AU - Okada, Shintaro
AU - Nakamura, Yusuke
PY - 1999
Y1 - 1999
N2 - Alagille syndrome (AGS) is a congenital anomaly syndrome that affects liver, heart, pulmonary artery, eyes, face, and skeleton. Recently, mutations of the JAG1 gene, which encodes a ligand for the Notch receptor, have been identified in AGS patients. We investigated the JAG1 gene for genetic alterations in eight Japanese AGS patients, using fluorescence in situ hybridization (FISH), single strand conformation polymorphism (SSCP) analysis, and direct sequencing. Subtle genetic alterations were identified in six of the eight patients, including three frameshift mutations, two splice donor mutations, and one nonsense mutation. All alleles with identified mutations can be expected to produce non-functional truncated proteins without a transmembrane domain. There was no apparent correlation between the genotypes of the patients and their affected organs, although the phenotypes of the patients with mutations at the splice donor site were found to be less severe.
AB - Alagille syndrome (AGS) is a congenital anomaly syndrome that affects liver, heart, pulmonary artery, eyes, face, and skeleton. Recently, mutations of the JAG1 gene, which encodes a ligand for the Notch receptor, have been identified in AGS patients. We investigated the JAG1 gene for genetic alterations in eight Japanese AGS patients, using fluorescence in situ hybridization (FISH), single strand conformation polymorphism (SSCP) analysis, and direct sequencing. Subtle genetic alterations were identified in six of the eight patients, including three frameshift mutations, two splice donor mutations, and one nonsense mutation. All alleles with identified mutations can be expected to produce non-functional truncated proteins without a transmembrane domain. There was no apparent correlation between the genotypes of the patients and their affected organs, although the phenotypes of the patients with mutations at the splice donor site were found to be less severe.
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U2 - 10.1007/s100380050150
DO - 10.1007/s100380050150
M3 - Article
C2 - 10429362
AN - SCOPUS:0033009915
SN - 1434-5161
VL - 44
SP - 235
EP - 239
JO - Journal of Human Genetics
JF - Journal of Human Genetics
IS - 4
ER -