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Dominantly-inherited lop ears.

Alexander K C Leung1, Albert Y F Kong, W Lane M Robson

  • 1Department of Pediatrics, the University of Calgary, and the Alberta Children's Hospital, Calgary, Alberta, Canada. aleung@ucalgary.ca

American Journal of Medical Genetics. Part A
|September 4, 2007
PubMed
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This study identifies an isolated bilateral lop ear anomaly in a Chinese family across four generations. Autosomal dominant inheritance is the most likely genetic cause for this condition.

Area of Science:

  • Genetics
  • Medical Genetics
  • Human Inheritance

Background:

  • Bilateral lop ear anomaly is a rare congenital condition.
  • Understanding the genetic basis of ear malformations is crucial for genetic counseling.

Purpose of the Study:

  • To investigate the inheritance pattern of isolated bilateral lop ear anomaly in a Chinese family.
  • To determine the most probable mode of genetic transmission for this condition.

Main Methods:

  • Pedigree analysis of a four-generation Chinese family.
  • Clinical observation of affected individuals with bilateral lop ear anomaly.

Main Results:

  • Five family members across four generations presented with isolated bilateral lop ear anomaly.

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  • The pattern suggested a dominant mode of inheritance.
  • Absence of male-to-male transmission was noted, but did not rule out X-linked dominant inheritance.

    • Conclusions:

    • Autosomal dominant inheritance is the most likely mode of transmission for isolated bilateral lop ear anomaly in this family.
    • The severity of the phenotypic anomaly was similar in affected males and females, supporting autosomal inheritance.