RT Journal Article
SR Electronic
T1 Proteus syndrome caused by novel somatic AKT1 duplication
JF Saudi Medical Journal
JO Saudi Med J
FD Prince Sultan Military Medical City
SP 95
OP 99
DO 10.15537/smj.2021.1.25618
VO 42
IS 1
A1 Talal AlAnzi
A1 Eman Al-mashharawi
A1 Amal Alhashem
YR 2021
UL http://smj.org.sa/content/42/1/95.abstract
AB Proteus syndrome (PS) is a rare overgrowth disorder that presents with asymmetrical growth of the bone and fat tissues following a mosaic pattern mutation. The estimated worldwide incidence is approximately one in one million live births. Proteus syndrome causes disfigurement and psychological impact through its effects on somatic tissue. Due to its rarity and diversity of tissues involved, it represents a significant challenge to caregivers and multidisciplinary medical teams. Here, we report a Saudi girl, with a large left cervical mass discovered antenatally. This mass was identified as a growing cystic hygroma, and she had features of overgrowth and hemangiomas. Whole exome sequencing was negative from the blood lymphocytes and affected tissue sample. However, deletion duplication analysis from tissue shows a novel mosaic somatic mutation of the AKT1 gene. Somatic mutation remains an obstacle, and the geneticist has an essential role in its management, providing an established genetic diagnosis, prognosis, and family counselling.