1. Chapter 12: Chromosome 12 12 A Cell Nucleus 30,955 906 aa Cytoplasm
DNA Sequence
Chromosome
30,955
Name of Protein 12
Name of Gene
DDX11
DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
transcription
Amino acid sequence
mRNA
906 aa
translation
Cytoplasm
A Cell
Nucleus
What does this protein make up or do?
translocates on single-stranded DNA in the 5' to 3' direction in the presence of ATP and, to a lesser extent, dATP.
Condition/Disease
Warsaw breakage syndrome

2. Description of DDX11 Symptoms and characteristics
Warsaw breakage syndrome. This condition causes multiple abnormalities that may include impaired growth, distinctive facial features, hearing loss, and heart malformations.
The mutations that cause Warsaw breakage syndrome severely reduce or completely eliminate ChlR1 enzyme activity. As a result, the enzyme cannot bind to DNA and cannot unwind the DNA strands to help with DNA replication and repair
Normal Vision

3. Description of Warsaw breakage syndrome
Who is affected? Anyone, but the following have a higher risk:
Warsaw breakage syndrome is a rare condition; at least four cases have been described in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Outlook or quality of life
Warsaw breakage syndrome is a condition that can cause multiple abnormalities.
impaired growth from birth leading to short stature and a small head size (microcephaly).
Affected individuals have distinctive facial features that may include a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks.

4. References
Genetics Home References URL:
Warsaw Breakage Syndrome disease: Malacards
Nijmegen Breakage Syndrome - Medscape Reference