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Related Experiment Videos

LADD syndrome is caused by FGF10 mutations.

J M Milunsky1, G Zhao, T A Maher

  • 1Center for Human Genetics, Boston University School of Medicine, Boston, MA, USA. jmilunsk@bu.edu

Clinical Genetics
|April 25, 2006
PubMed
Summary
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Fibroblast growth factor 10 (FGF10) mutations cause Lacrimo-auriculo-dento-digital syndrome (LADD) and aplasia of the lacrimal and salivary glands (ALSG). These conditions may be part of a single spectrum due to FGF10 gene mutations.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Lacrimo-auriculo-dento-digital syndrome (LADD) is a congenital disorder with anomalies in lacrimal, salivary, auditory, dental, and digital systems.
  • Aplasia of the lacrimal and salivary glands (ALSG) is characterized by developmental defects of these glands.
  • Recent studies linked FGF10 loss-of-function mutations to ALSG, suggesting a potential role in LADD syndrome due to phenotypic overlap.

Purpose of the Study:

  • To investigate the hypothesis that FGF10 mutations are associated with LADD syndrome.
  • To identify the genetic cause of LADD syndrome in affected individuals.
  • To explore the relationship between LADD syndrome and ALSG.

Main Methods:

  • Genetic analysis of the FGF10 gene in patients with LADD syndrome and their families.

Related Experiment Videos

  • Identification of mutations using techniques like restriction enzyme digestion.
  • Comparison of identified mutations with control populations and existing literature on FGF10 mutant mice.

    • Main Results:

    • A de novo missense mutation in FGF10 exon 3 was identified in a patient with LADD syndrome.
    • A nonsense mutation in FGF10 exon 2 was found in a mother with ALSG and her daughter with LADD syndrome.
    • FGF10 mutations were confirmed not to be present in 500 control chromosomes.

    Conclusions:

    • FGF10 mutations are a cause of LADD syndrome.
    • ALSG and LADD syndrome may represent variable manifestations of the same genetic disorder caused by FGF10 mutations.
    • FGF10 is a critical gene in the development of multiple organ systems affected in LADD and ALSG.