A1 Journal article – refereed
A 69-year-old woman with Coffin-Siris syndrome




List of Authors: Määttänen L., Hietala M., Ignatius J., Arvio M.
Publisher: WILEY
Publication year: 2018
Journal: American Journal of Medical Genetics Part A
Journal name in source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Journal acronym: AM J MED GENET A
Volume number: 176
Issue number: 8
Number of pages: 4
ISSN: 1552-4825
eISSN: 1552-4825

Abstract
Coffin-Siris syndrome (CSS) is a rare intellectual disability syndrome classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and other digits, distinctive facial features, hirsutism/hypertrichosis, and sparce scalp hair. It is genetically heterogeneous but most often caused by a pathogenic variant in the ARID1B gene. Previous clinical reports of CSS patients are mainly based on young or middle-aged individuals. Here, we report a 69-year-old woman with CSS phenotype and a pathogenic ARID1B loss-of-function variant c.5259_5260dup. She has severe intellectual disability but otherwise she is in relatively good health both physically and mentally. There is no evident history of chronic illness or progressive disability. CSS appears to be compatible with long survival and most likely it is underdiagnosed in geriatric patients with intellectual disability.

Last updated on 2019-21-08 at 20:33