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

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

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.

References Genetics Home References URL:http://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome Warsaw Breakage Syndrome disease: Malacards www.malacards.org/card/warsaw_breakage_syndrome Nijmegen Breakage Syndrome - Medscape Reference http://emedicine.medscape.com/article/1116869-overview