Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction

作者：An Seong Soo A; Bagyinszky Eva; Kim Hye Ryoun; Seok Ju Won; Shin Hae Won; Bae SeunOh; Kim SangYun^*; Youn Young Chul^*

来源：BMC Neurology, 2016, 16(1): 71.

DOI：10.1186/s12883-016-0591-6

• Alzheimer's disease
• Presenilin 1 mutation
• Presenilin 1 protein structure
• Novel mutation
• Structural prediction

Background: Three main genes are described as causative genes for early-onset Alzheimer dementia (EOAD): APP, PSEN1 and PSEN2. We describe a woman with EOAD had a novel PSEN1 mutation.
Case presentation: A 54-year-old right-handed woman presented 12-year history of progressive memory decline. She was clinically diagnosed as familial Alzheimer's disease due to a PSEN1 mutation. One of two daughters also has the same mutation, G209A in the TM-IV of PS1 protein. Her mother had unspecified dementia that began at the age of 40s. PolyPhen2 and SIFT prediction suggested that G209A might be a damaging variant with high scores. 3D modeling revealed that G209A exchange could result significant changes in the PS1 protein.
Conclusion: We report a case of EOAD having probable novel PSEN1 (G209A) mutation verified with structural prediction.

• 出版日期2016-5-20