On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition. (Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.)
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|Date of Report||April 14, 2016|
|Full Gene Name||T-BOX 2|
|Location|| Chromosome 17 (17q23.2)
Click to enlarge ideogram in new window (generated using the NCBI Genome Decoration Page )
|Function||The TBX2 gene codes for a transcription factor that is thought to be important in regulating development (Harrelson et al., 2004 ).|
|Database Links||GeneCards: GC17P061399 NCBI Gene: 6909 OMIM: 600747 UniProtKB/Swiss-Prot: Q13207|
|Clinical Significance|| A change in the TBX2 gene was identified in a UDN participant, his mother, and his sister. Research is underway to see if this change is causing symptoms in this family.
The participant, an 8-year-old Caucasian male with DiGeorge syndrome (with unknown cause), was found to carry the following genetic variant in the TBX2 gene: c.59G>A/p.R20Q.
|Gene||Inheritance Pattern||Position||Transcript||DNA Change||Protein Change|
|TBX2||autosomal dominant||chr17:59477596||NM_005994.3||c.59G>A|| p.R20Q
The patient was born with a cleft lip, cleft palate, atrial septal defect, skeletal abnormalities, and absent thymus with severe T-cell deficiency. At 6 months, he underwent a thymus transplant and was diagnosed with complete DiGeorge syndrome. He later developed inflammation of the thyroid gland with hypothyroidism, followed by hyperthyroidism. At 3 years, he was found to have early learning, communication, and social-emotional delays. At 6 years old, his cognitive ability was average, but he still had delays in verbal, math, and reading comprehension skills. While he does show some autistic behaviors, he does not meet criteria for an autism spectrum disorder. He has been diagnosed with ADHD. His mother and sister have similar, milder symptoms.
Some of his other features include:
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