چکیده:
Coffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more
severely than females. It is characterized by mental retardation, short stature, head and facial
abnormalities, skeletal anomalies and developmental delays. The signs and symptoms vary
in different people. We report a 14-year-old male patient, diagnosed with CLS based on his
clinical features. Genetic testing revealed a de novo mutation in ribosomal protein S6 kinase
alpha-3 (RPS6KA3) gene (c.2185C>T; p. Arg729Trp). This is the first molecularly confirmed
case report of a patient with CLS from Iran.
خلاصه ماشینی:
Case Report: Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran Ali Nikfar1,2 , Mojdeh Mansouri1 , Gita Fatemi Abhari2* 1.
3. 325 Funding: See Page 328 Copyright: The Author(s) A B S T R A C T Article info: Received: 29 Mar 2018 Accepted: 20 Jul 2018 Available Online: 01 Sep 2018 Keywords: Coffin-lowry Syndrome, RPS6KA3, RSK2, X-linked mental retardation, Whole exome sequencing Coffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more severely than females.
Genetic testing revealed a de novo mutation in ribosomal protein S6 kinase alpha-3 (RPS6KA3) gene (c.
This is the first molecularly confirmed case report of a patient with CLS from Iran.
● Coffin-Lowry Syndrome is caused by mutations in the ribosomal protein S6 kinase alpha-3 (RPS6KA3) gene, which encodes ribosomal S6 kinase-2 (RSK2), a growth factor-regulated protein kinase.
com 325 September 2018, Volume 16, Number 3 I ranian Rehabilitation Journal Plain Language Summary Coffin-Lowry Syndrome (CLS) is a rare genetic disorder with X-linked dominant inheritance affecting multiple sys- tems.
1. Introduction offin-Lowry syndrome (CLS, OMIM 303600) is a rare X-linked intellectual disability syndrome characterized by mental retardation associated with severe developmental delays, distinctive facial features, and skeletal changes.
Iden- tification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome.
The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.
Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran.
Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran.
Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran.