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Ann Pediatr Endocrinol Metab > Accepted Articles
DOI: https://doi.org/10.6065/apem.2142134.067    [Accepted] Published online January 18, 2022.
First Korean female child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
Ari Song1, Minji Im2, Min-Sun Kim3, Eu Seon Noh3, Chiwoo Kim3, Jahyun Jang4, Sae-Mi Lee5,6, Chang-Seok Ki5, Sung Yoon Cho3  , Dong-Kyu Jin3
1Department of Pediatrics, Incheon Sejong Hospital, Incheon, Korea
2Department of Pediatrics, Sungae Hospital, Seoul, Korea
3Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
4Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
5Green Cross Genome, Yongin, Korea
6Department of Laboratory Medicine, Kangwon National University School of Medicine, Chuncheon, Korea
Address for correspondence:  Sung Yoon Cho
Email: nadri1217@naver.com
Received: June 28, 2021   Revised: July 31, 2021   Accepted: August 6, 2021
Abstract
Coffin-Lowry Syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, making their diagnosis more difficult. Here, we described the clinical and molecular findings in a Korean female child with CLS and reviewed the literature on female CLS. A five-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel heterozygous likely pathogenic variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to delayed bone age in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for the diagnosis of rare disorders like CLS, as this condition is not simple and the associated spectrum of phenotypes may vary.
Keywords: Coffin-Lowry syndrome, RPS6KA3, X-linked inheritance, Short stature, Developmental delay
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