Genetic analysis of short stature

Short stature is a common diagnostic problem in pediatric and clinical genetic
practice. With the routine diagnostic methods the cause of short stature
remains unknown in a high percentage of patients, despite extensive diagnostic
analyses. This study focuses on the improvement of diagnostic techniques, in
order to come to a diagnosis more often.
In a series of patients with short stature, proportionate as well as
disproportionate, blood will be taken. This material will be used for several
molecular analyses, also known as system biology. We expect this approach to
provide a better understanding of the causes of growth disorders leading to
short stature with or without disproportion.

a. analysis of the usefulness of new molecular biological techniques in the
diagnostic process of short stature, especially the detection of small
chromosomal anomalies.
b. identification of genetic factors causing short stature or influencing the
severity of it.
c. analysis of protein profiles in plasma with proteomics techniques.

a. a human material bank (DNA) of persons with short stature will be
constructed for research of causes of short stature. To facilitate the search
for responsible genes DNA of both parents will also be stored.
b. the material will be used to validate new molecular biological techniques as
a diagnostic tool in patients with short stature.
c. after the genetic confirmation of a diagnosis, associations with a certain
protein profile in this genetic disorder will be investigated.

From every person blood will be taken and height measurements performed once.
When DNA is available in the Laboratory of Diagnostic Genome Analysis (LDGA) in
Leiden, or in another diagnostic DNA laboratory, blood sampling in this person
will be abated. Blood will be taken from the parents for isolation of DNA.
These actions will hardly be hazardous.