First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review
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,...
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Society of Pediatric Endocrinology
2022-01-01
|
| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-2142134-067.pdf |
| _version_ | 1797852230556057600 |
|---|---|
| author | Ari Song Minji Im Min-Sun Kim Eu Seon Noh Chiwoo Kim Jahyun Jang Sae-Mi Lee Chang-Seok Ki Sung Yoon Cho Dong-Kyu Jin |
| author_facet | Ari Song Minji Im Min-Sun Kim Eu Seon Noh Chiwoo Kim Jahyun Jang Sae-Mi Lee Chang-Seok Ki Sung Yoon Cho Dong-Kyu Jin |
| author_sort | Ari Song |
| collection | DOAJ |
| description | 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, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-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, likely pathogenic, heterozygous 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 the delayed bone age reported 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 diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary. |
| first_indexed | 2024-04-09T19:29:39Z |
| format | Article |
| id | doaj.art-2c7a73e1f338406a9c811f673589a668 |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-04-09T19:29:39Z |
| publishDate | 2022-01-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-2c7a73e1f338406a9c811f673589a6682023-04-05T00:54:29ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922022-01-01281677210.6065/apem.2142134.067915First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature reviewAri Song0Minji Im1Min-Sun Kim2Eu Seon Noh3Chiwoo Kim4Jahyun Jang5Sae-Mi Lee6Chang-Seok Ki7Sung Yoon Cho8Dong-Kyu Jin9 Department of Pediatrics, Incheon Sejong Hospital, Incheon, Korea Department of Pediatrics, Sungae Hospital, Seoul, Korea Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Green Cross Genome, Yongin, Korea Green Cross Genome, Yongin, Korea Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, KoreaCoffin-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, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-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, likely pathogenic, heterozygous 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 the delayed bone age reported 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 diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.http://e-apem.org/upload/pdf/apem-2142134-067.pdfcoffin-lowry syndromex-linked inheritanceshort staturedevelopmental delay |
| spellingShingle | Ari Song Minji Im Min-Sun Kim Eu Seon Noh Chiwoo Kim Jahyun Jang Sae-Mi Lee Chang-Seok Ki Sung Yoon Cho Dong-Kyu Jin First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review Annals of Pediatric Endocrinology & Metabolism coffin-lowry syndrome x-linked inheritance short stature developmental delay |
| title | First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review |
| title_full | First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review |
| title_fullStr | First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review |
| title_full_unstemmed | First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review |
| title_short | First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review |
| title_sort | first female korean child with coffin lowry syndrome a novel variant in diagnosed by exome sequencing and a literature review |
| topic | coffin-lowry syndrome x-linked inheritance short stature developmental delay |
| url | http://e-apem.org/upload/pdf/apem-2142134-067.pdf |
| work_keys_str_mv | AT arisong firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview AT minjiim firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview AT minsunkim firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview AT euseonnoh firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview AT chiwookim firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview AT jahyunjang firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview AT saemilee firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview AT changseokki firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview AT sungyooncho firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview AT dongkyujin firstfemalekoreanchildwithcoffinlowrysyndromeanovelvariantindiagnosedbyexomesequencingandaliteraturereview |