𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Twelve novel JAG1 gene mutations in polish Alagille syndrome patients

✍ Scribed by Dorota Jurkiewicz; Ewa Popowska; Christiane Gläser; Ingo Hansmann; Małgorzata Krajewska-Walasek

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
119 KB
Volume
25
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.

✦ Synopsis

Communicated by Mark H. Paalman Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities of the liver, heart, eyes, vertebrae, and face. Mutations in the JAG1 (Jagged 1) gene, coding a ligand in the evolutionarily conserved Notch signaling pathway, are responsible for AGS. Here we present sixteen different JAG1 gene mutations, among them twelve novel, not described previously. Seven frameshift: c. 172_178del7 (p.Ala58fs), c.509delT (p.Leu170fs), c.1197delG (p.Val399fs), c.1485_1486delCT (p.Pro495fs), c.1809_1810insTGGG (p.Lys604fs), c.2122_2125delCAGT (p.Gln708fs), c.2753delT (p.Ile918fs); five nonsense: c.383G>A (p.Trp128X), c.496C>T (p.Glu166X), c.841C>T (p.Gln281X), c.1207C>T (p.Gln403X), c.1603C>T (p.Gln535X); two splice site: c.388-1G>C, c.3048+1_3048+2insG and two missense mutations: c.359T>A (p.Ile120Asn), c.560G>A (p.Cys187Tyr) were found. Forty percent of the changes were identified in exons 2 and 4, the remaining mutations are distributed along the entire coding sequence of the gene. Seventyfive percent of the mutations lead to creation of premature termination codons. Family studies revealed that the specific mutations were inherited in 3 out of 11 investigated cases. No correlation between genotype and phenotype was observed.

📜 SIMILAR VOLUMES

Mutation analysis of Jagged1 (JAG1) in A
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
✍ Raymond P. Colliton; Lynn Bason; Feng-Min Lu; David A. Piccoli; Ian D. Krantz; N 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

Alagille syndrome (AGS) is an autosomal dominant disorder caused by mutations in Jagged1 (JAG1), a ligand in the evolutionarily conserved Notch signaling pathway. Previous studies have demonstrated that a wide spectrum of JAG1 mutations result in AGS. These include total gene deletions, protein trun

Fifteen novel mutations in the JAGGED1 g
Fifteen novel mutations in the JAGGED1 gene of patients with Alagille syndrome
✍ Cécile Crosnier; Catherine Driancourt; Nicole Raynaud; Michelle Hadchouel; Michè 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

Mutations in the human JAGGED1 gene cause Alagille syndrome, an autosomal dominant developmental disorder. The gene encodes a transmembrane protein which is a ligand of Notch receptors. We report 23 mutations in previously undescribed probands, including 15 novel mutations and 8 recurrent mutations.

Jagged1 mutations in Alagille syndrome
Jagged1 mutations in Alagille syndrome
✍ Nancy B. Spinner; Raymond P. Colliton; Cécile Crosnier; Ian D. Krantz; Michelle 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views
Identification of 36 novel Jagged1 (JAG1
Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome
✍ Albrecht Röpke; Annegret Kujat; Mechthild Gräber; Joannis Giannakudis; Ingo Hans 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB

Alagille syndrome (AGS) is an autosomal dominant disorder characterized by five major symptoms: cholestasis, vertebral deformity, heart malformations, ocular defects and peculiar facial appearance. The previously described Jagged1 (JAG1) gene on chromosome 20p12 has been identified as being responsi

Jagged-1 mutation analysis in Italian Al
Jagged-1 mutation analysis in Italian Alagille syndrome patients
✍ Giuseppe Pilia; Manuela Uda; Dolores Macis; Fulvia Frau; Laura Crisponi; Fiorell 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 389 KB 👁 2 views

## Communicated by Riccardo Fodde Alagille syndrome (AGS) is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, vertebrae, and craniofacial region. The Jagged-1 (JAG1) gene, which encodes a ligand of Notch, has recently been found mutated in AGS. In th

DHPLC mutation analysis of Jagged1 (JAG1
DHPLC mutation analysis of Jagged1 (JAG1) reveals six novel mutations in Australian alagille syndrome patients
✍ Mandy L. Heritage; John C. MacMillan; Gregory J. Anderson 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 89 KB 👁 1 views

Alagille syndrome (AGS) is an autosomal dominant disorder characterized by abnormal development of the liver, heart, skeleton, eye, and face. Mutations in the Jagged1 gene have been found to result in the AGS phenotype. Using denaturing high performance liquid chromatography (DHPLC) mutation analysi