Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them
PSYCHIATRIC GENETICS, vol.32, no.5, pp.194-198, 2022 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 32 Issue: 5
- Publication Date: 2022
- Doi Number: 10.1097/ypg.0000000000000323
- Journal Name: PSYCHIATRIC GENETICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Psycinfo
- Page Numbers: pp.194-198
- Keywords: Coffin-Lowry syndrome, compulsive eyebrow-pulling behavior, RPS6KA3, X-linked intellectual disability
- Dokuz Eylül University Affiliated: Yes
Abstract
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. Due to skewed X chromosome inactivation, the clinical presentations of the affected females vary greatly and clinical manifestations could range from mild intellectual disability to typical features of CLS in males. Here, we reported two different novel RPS6KA3 gene mutations in two unrelated CLS patients and also described concomitant compulsive eyebrow-pulling behavior in one of these cases for the first time in the literature.