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Alagille syndrome

I D Krantz1, D A Piccoli, N B Spinner

  • 1Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA 19104, USA.

Journal of Medical Genetics
|February 1, 1997
PubMed
Summary
This summary is machine-generated.

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Alagille syndrome is an inherited disorder affecting multiple organs, including the liver, heart, and eyes. Research is advancing the molecular understanding of this complex genetic condition.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatric Medicine
  • Medical Genetics

Background:

  • Alagille syndrome (OMIM 118450) is an autosomal dominant disorder characterized by multi-systemic abnormalities.
  • It presents with liver disease (bile duct paucity, cholestasis), cardiac defects (pulmonary stenosis), eye anomalies (posterior embryotoxon), skeletal malformations (butterfly vertebrae), and distinct facial features.
  • This syndrome is a notable cause of neonatal jaundice and pediatric cholestasis.

Purpose of the Study:

  • To review the clinical, genetic, cytogenetic, and molecular findings in Alagille syndrome.
  • To provide an overview of the current understanding of the disease gene and its critical region.
  • To discuss the variable expressivity and high rate of new mutations associated with Alagille syndrome.

Main Methods:

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  • Review of clinical case studies and patient data.
  • Analysis of cytogenetic and molecular genetic findings, including chromosomal mapping to 20p12.
  • Examination of inheritance patterns and mutation frequencies.

Main Results:

  • Alagille syndrome exhibits highly variable expressivity, with affected individuals showing abnormalities in one to multiple organ systems.
  • The disease gene is mapped to chromosome 20p12, although detectable deletions in this region are infrequent.
  • New mutations account for an estimated 15-50% of cases, indicating a significant role for de novo events.

Conclusions:

  • Significant progress has been made in defining the molecular basis of Alagille syndrome.
  • Continued research into the 20p12 critical region is essential for a comprehensive understanding.
  • The variable clinical presentation underscores the complexity of Alagille syndrome genetics.