Nov 13, 2017
GNAS complex locus
The GNAS gene codes for an alpha subunit of the guanine nucleotide-binding protein (G protein) (Genetics Home Reference).
A change in the GNAS gene was identified in a UDN participant. The participant, a 12-year-old male with overgrowth, developmental delay, and behavior problems was found to carry the following genetic change in the GNAS gene: c.1235C>T / p.P412L.
After birth, the patient was found to be in respiratory distress. He had low levels of red blood cells (anemia), yellowing of the skin (jaundice caused by hyperbilirubinemia), and heartburn (gastroesophageal reflux). This required hospitalization in the NICU for 72 days.
Over time, the patient was noticed to have delayed milestones (global developmental delay), walking and talking at approximately 2 years of age. He progressed quickly afterward. However, he still has difficulty walking and currently uses a walker and sometimes a wheelchair. He experiences painful bone cracking and hand, foot, and ankle discomfort when walking.
At the age of 9, he was seen by endocrinology due to increased height and weight despite diet and exercise. Currently, he continues to grow at a fast pace with his clothing and shoe size going up over the span of just a few months.
Some of his other features include:
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