Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

Legius, Eric; Eyskens, Bénédicte; Eggermont, Ephrem; Desmet, V J; Bethune, G de; Berghe, Herman Van den

doi:10.1002/ajmg.1320350419

Cited by 36 publications

(18 citation statements)

References 13 publications

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“…Since Byrne et al I19861 presented a 20 bp deletion in an infant with Alagille syndrome, an increasing number of cases has been reported. It was proposed that Alagille syndrome was a contiguous gene syndrome and was assigned to 20~11.23-p12.2 [Schnittger et al, 1989;Legius et al, 1990;Anad et al, 19901. We find that 17 cases of the 20 bp deletion have been reported to date.…”

Section: Discussionmentioning

confidence: 99%

Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)

Shu

Yang

et al. 1996

Am. J. Med. Genet.

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We present a 6‐year‐old Chinese boy with Alagille syndrome and an interstitial 20p deletion, with a karyotype of 46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13)mat. He had a peculiar face and suffered from congenital heart disease, growth retardation, severe cholestasis, hepatosplenomegaly, and impaired renal function. The karyotype of his mother showed a balanced translocation, 46,XX,dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13), and her phenotype was normal. His dead elder brother was highly suspected as another victim of Alagille syndrome. The findings in the present family suggested that if Alagille syndrome is a single gene defect, the putative gene responsible for the syndrome would not be located at the insertion breakpoints but located within the deletion extent. © 1996 John Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)

Shu

Yang

et al. 1996

Am. J. Med. Genet.

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“…Linkage analysis of a large family with AGS has allowed us to map the disorder between D20S59 and D20S65 at 20pll.2-p l 2, a region of the genome that carries a dele tion in some patients with AGS (Schnittger et al 1989;Zhang et al 1990;Legius et al 1990;Anad et al 1990;Teebi et al 1992;Desmaze et al 1992) and that harbours the breakpoint of a balanced translocation in patients from a single family (Spinner et al 1994). At present, our resuits do not permit a further refinement of the mapping of the AGS locus, because the segment of 20p that co-segregates with the disorder spans the minimal area of overlap of deletions and of the translocation breakpoint (Fig.…”

Section: Discussionmentioning

confidence: 99%

“…The aetiology of AGS is largely unknown. An interstitial deletion at chro mosome 20p l 1,2-p l 2 has been detected in a limited num ber of patients indicating that this chromosomal region encompasses a locus for AGS (Byrne et al 1986;Schnittger et al 1989;Zhang et al 1990;Legius et al 1990;Anad et al 1990;Teebi et al 1992;Desmaze et al 1992). This has been substantiated by the detection of a family in which a balanced translocation t(2 ;20) (q2L3;pl2) co-segregates with the AGS phenotype (Spin ner et al 1994).…”

Section: Introductionmentioning

confidence: 99%

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family

et al. 1995

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A bstract Alagille syndrome (AGS) or arteriohepatic dysplasia is a rare but well-defined clinical entity that is usually inherited as an autosomal dominant trait. A lim ited number of patients carry a deletion in chromosome 20p, with 20p 11.23-pi 2.2 as the area of minimal overlap. Recently, a family has been identified in which a balanced translocation with a breakpoint in 20p l 2 co-segregates with the AGS phenotype. Here, we report a three-genera tion family with AGS and in which the affected members have a normal karyotype. Linkage analysis was perfozTned with markers from the 20p candidate region. A lod score of Z=2.96 was obtained with D20S27 at no recombina tion. Combining D20S27 and D20S61 to a single highly informative locus resulted in a maximum lod score of Z -+ 3.56 at 0=0.0. Haplotype analysis positioned AGS between D20S59 and D20S65, markers that define an in terval of about 40 cM. Allelic loss was not observed for the tested markers and no abnormalities in the PAX1 can didate gene were detected. These findings demonstrate that the locus on chromosome 20p could be responsible for AGS in cytogenetically normal patients and argues for a general role of this locus in the aetiology of AGS.

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“…110 Jagged2 mutant mice have congenital defects, including cleft palate, because of abnormal fusion between the palatal shelves and the tongue. 111,112 Jagged1 mutations cause Alagille syndrome, including biliary, cardiac and craniofacial anomalies, such as cleft palate, 113 and loss of Jagged1 in the CNC tissues most greatly affects the palatogenesis, 114 indicating Jagged1 is involved in midfacial and palatal morphogenesis. Therefore, Notch1-Jagged1/2 signaling was involved in normal palatal development, but the specific roles they play need further exploration.…”

Section: Other Factorsmentioning

confidence: 99%

Targeted Mutations of Genes Reveal Important Roles in Palatal Development in Mice

Ma¹,

Shi²,

Zheng³

2015

Annals of Plastic Surgery

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The process of palatal development is regulated by growth factors, extracellular matrix (ECM) protein, and cell adhesion molecules, of which disturbance may result in cleft palate. Knockout mice are important animal models for studying the role of genes during palatal development. Therefore, in this review, we will describe genes knockout in mice to reveal the biological mechanisms of these genes in the formation of the cleft palate.

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Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

Cited by 36 publications

References 13 publications

Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)

Alagille syndrome with interstitial 20p deletion derived from maternal ins(7;20)

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family

Targeted Mutations of Genes Reveal Important Roles in Palatal Development in Mice

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