Abstract for presentation at 11th International Congress of Human Genetics

A Seven Generation European New Zealand Kindred with Brachydactyly A1:- Molecular and Clinical Study and a Prenatal Diagnosis

  • Dr Alexa Kidd, Central and Southern Regional Genetics Services, Wellington Hospital, New Zealand, New Zealand
  • Dr Allison Grimsey, (2) Ottowa Health Research Institute, University of Ottowa , Canada, Canada
  • Dr Ashley Barnes, (2) Ottowa Health Research Institute, University of Ottowa , Canada
  • Dr Michel Sangalli, Dept of Obstetrics, Wellington Hospital, New Zealand, New Zealand
  • Prof Dennis Bulman, Ottowa Health Research Institute, University of Ottowa , Canada, Canada

    • Type A1 brachydactyly (BDA1 MIM 112500) is characterised by shortness of all the middle phalanges of the hands and toes, occasional fusion of the first and second phalanges, and shortness of the proximal phalanges of the first digit. It can also be associated with relative short stature and a number of other skeletal anomalies. It has the distinction of being the very first disorder to be described as an autosomal dominant Mendelian trait. This was by Farabee in 1903. Drinkwater reported further affected families of English ancestry. In 2001, mutations in the Indian Hedgehog gene (IHH) were identified in several BDA1 families. Two of the Drinkwater families had a common mutation resulting in an Asn100Asp amino acid substitution in this gene.
    We present a seven generation European New Zealand family of English descent with BDA1. They also have the same mutation as Drinkwater’s families. We will discuss and illustrate the clinical features of six members of the extended family from two different branches of the family. We will present the haplotype analysis of this family and the Drinkwater families. We suspect they all share a common founder.
    We will also show ultrasound images of an 18 week fetus with the condition from the family. The diagnosis was confirmed at birth.

    Conference Organiser - ICMS Pty Ltd