Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants
Background: 3M syndrome is a rare autosomal recessive disease, characterized by intrauterine and postnatal growth retardation, facial dysmorphism, large head circumference, and skeletal changes, has rarely been reported in the Chinese population.Methods: We describe the clinical manifestations and g...
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| Format: | Article |
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Frontiers Media S.A.
2023-08-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1164936/full |
| _version_ | 1797730217896181760 |
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| author | Ningan Xu Ningan Xu Kangxiang Liu Yongjia Yang Xiaoming Li Yan Zhong Yan Zhong |
| author_facet | Ningan Xu Ningan Xu Kangxiang Liu Yongjia Yang Xiaoming Li Yan Zhong Yan Zhong |
| author_sort | Ningan Xu |
| collection | DOAJ |
| description | Background: 3M syndrome is a rare autosomal recessive disease, characterized by intrauterine and postnatal growth retardation, facial dysmorphism, large head circumference, and skeletal changes, has rarely been reported in the Chinese population.Methods: We describe the clinical manifestations and gene variants in four sporadic cases of 3M syndrome in Chinese individuals from different families.Results: All cases had significant growth retardation, relative macrocephaly, and typical facial features. Exome sequencing revealed that two patients with 3M syndrome had homozygous variants of the CUL7 gene: one novel pathogenic variant and one previously reported pathogenic variant; the other two patients were heterozygous for variants in OBSL1, one of which had not been reported previously. Clinical evaluation indicated that these Chinese patients with 3M syndrome shared similar recognizable features with those reported in patients of other ethnic backgrounds, but not all patients with 3M syndrome in this study had normal development milestones. Two patients underwent recombinant human growth hormone (rhGH) therapy and showed accelerated growth in the first 2 years; however, the growth rate slowed in the third year in one case. There were no obvious adverse reactions during rhGH treatment.Conclusion: We report one novel CUL7 and one novel OBSL1 mutation in patients with 3M syndrome. Children with short stature, specific facial features, and physical symptoms should be referred for genetic testing to obtain precise diagnosis and appropriate treatment. The effects of rhGH treatment on adult height requires long-term observation and study in a large sample. |
| first_indexed | 2024-03-12T11:40:59Z |
| format | Article |
| id | doaj.art-dd2a622cca2844ee882587837e8ece0b |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-03-12T11:40:59Z |
| publishDate | 2023-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-dd2a622cca2844ee882587837e8ece0b2023-08-31T15:44:09ZengFrontiers Media S.A.Frontiers in Genetics1664-80212023-08-011410.3389/fgene.2023.11649361164936Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variantsNingan Xu0Ningan Xu1Kangxiang Liu2Yongjia Yang3Xiaoming Li4Yan Zhong5Yan Zhong6Department of Child Healthcare, Hunan Children’s Hospital, University of South China, Changsha, Hunan, ChinaThe Laboratory of Developmental and Behavioral Pediatrics, Hunan Children’s Hospital Changsha, University of South China, Changsha, Hunan, ChinaDepartment of Child Healthcare, Hunan Children’s Hospital, University of South China, Changsha, Hunan, ChinaThe Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute (HCRI), Hunan Children’s Hospital, University of South China, Changsha, ChinaDepartment of Radiology, Hunan Children’s Hospital, University of South China, Changsha, Hunan, ChinaDepartment of Child Healthcare, Hunan Children’s Hospital, University of South China, Changsha, Hunan, ChinaThe Laboratory of Developmental and Behavioral Pediatrics, Hunan Children’s Hospital Changsha, University of South China, Changsha, Hunan, ChinaBackground: 3M syndrome is a rare autosomal recessive disease, characterized by intrauterine and postnatal growth retardation, facial dysmorphism, large head circumference, and skeletal changes, has rarely been reported in the Chinese population.Methods: We describe the clinical manifestations and gene variants in four sporadic cases of 3M syndrome in Chinese individuals from different families.Results: All cases had significant growth retardation, relative macrocephaly, and typical facial features. Exome sequencing revealed that two patients with 3M syndrome had homozygous variants of the CUL7 gene: one novel pathogenic variant and one previously reported pathogenic variant; the other two patients were heterozygous for variants in OBSL1, one of which had not been reported previously. Clinical evaluation indicated that these Chinese patients with 3M syndrome shared similar recognizable features with those reported in patients of other ethnic backgrounds, but not all patients with 3M syndrome in this study had normal development milestones. Two patients underwent recombinant human growth hormone (rhGH) therapy and showed accelerated growth in the first 2 years; however, the growth rate slowed in the third year in one case. There were no obvious adverse reactions during rhGH treatment.Conclusion: We report one novel CUL7 and one novel OBSL1 mutation in patients with 3M syndrome. Children with short stature, specific facial features, and physical symptoms should be referred for genetic testing to obtain precise diagnosis and appropriate treatment. The effects of rhGH treatment on adult height requires long-term observation and study in a large sample.https://www.frontiersin.org/articles/10.3389/fgene.2023.1164936/full3-M syndromegrowth hormoneCUL-7OBSL1short stature |
| spellingShingle | Ningan Xu Ningan Xu Kangxiang Liu Yongjia Yang Xiaoming Li Yan Zhong Yan Zhong Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants Frontiers in Genetics 3-M syndrome growth hormone CUL-7 OBSL1 short stature |
| title | Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants |
| title_full | Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants |
| title_fullStr | Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants |
| title_full_unstemmed | Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants |
| title_short | Chinese patients with 3M syndrome: clinical manifestations and two novel pathogenic variants |
| title_sort | chinese patients with 3m syndrome clinical manifestations and two novel pathogenic variants |
| topic | 3-M syndrome growth hormone CUL-7 OBSL1 short stature |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2023.1164936/full |
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