Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type
BackgroundVariants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) gene, can result in clinically rare spondyloepiphyseal dysplasia of Kondo-fu type (OMIM #618392, SEDKF), Silver–Russell syndrome, and CAOP (cataract, alopecia, oral mucosal disorder, and psoriasis-like) syndrome.Cas...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-02-01
|
| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1068718/full |
| _version_ | 1811173247407882240 |
|---|---|
| author | Congli Chen Congli Chen Jin Wu Jin Wu Ying Liu Ying Liu |
| author_facet | Congli Chen Congli Chen Jin Wu Jin Wu Ying Liu Ying Liu |
| author_sort | Congli Chen |
| collection | DOAJ |
| description | BackgroundVariants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) gene, can result in clinically rare spondyloepiphyseal dysplasia of Kondo-fu type (OMIM #618392, SEDKF), Silver–Russell syndrome, and CAOP (cataract, alopecia, oral mucosal disorder, and psoriasis-like) syndrome.Case presentationA 6-year-old Chinese male child diagnosed with SEDKF underwent 3 years of growth hormone therapy. A genetic examination revealed two new nonsense variants in the MBTPS1 gene on chromosome 16q23-q24 with compound heterozygotes c.1589(exon12)A > G and c.163(exon2)G > A.ConclusionThe MBTPS1 gene c.1589(exon12)A > G and c.163(exon2)G > A on chromosome 16q23-q24 is associated with SEDKF. Growth hormone therapy can repair growth retardation in patients with spondyloepiphyseal dysplasia, Kondo-Fu type; however, more evidence of such patient cases is required to support this hypothesis. |
| first_indexed | 2024-04-10T17:44:06Z |
| format | Article |
| id | doaj.art-45a7496bf6fc4aa78d73c09e3edde57a |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-10T17:44:06Z |
| publishDate | 2023-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-45a7496bf6fc4aa78d73c09e3edde57a2023-02-03T05:46:35ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-02-011110.3389/fped.2023.10687181068718Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu typeCongli Chen0Congli Chen1Jin Wu2Jin Wu3Ying Liu4Ying Liu5Department of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaDepartment of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, ChinaKey Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, ChinaBackgroundVariants in membrane-bound transcription factor peptidase, site 1 (MBTPS1) gene, can result in clinically rare spondyloepiphyseal dysplasia of Kondo-fu type (OMIM #618392, SEDKF), Silver–Russell syndrome, and CAOP (cataract, alopecia, oral mucosal disorder, and psoriasis-like) syndrome.Case presentationA 6-year-old Chinese male child diagnosed with SEDKF underwent 3 years of growth hormone therapy. A genetic examination revealed two new nonsense variants in the MBTPS1 gene on chromosome 16q23-q24 with compound heterozygotes c.1589(exon12)A > G and c.163(exon2)G > A.ConclusionThe MBTPS1 gene c.1589(exon12)A > G and c.163(exon2)G > A on chromosome 16q23-q24 is associated with SEDKF. Growth hormone therapy can repair growth retardation in patients with spondyloepiphyseal dysplasia, Kondo-Fu type; however, more evidence of such patient cases is required to support this hypothesis.https://www.frontiersin.org/articles/10.3389/fped.2023.1068718/fullspondyloepiphyseal dysplasiaKondo-Fu typeMBTPS1genotypephenotyperhGH therapy |
| spellingShingle | Congli Chen Congli Chen Jin Wu Jin Wu Ying Liu Ying Liu Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type Frontiers in Pediatrics spondyloepiphyseal dysplasia Kondo-Fu type MBTPS1 genotype phenotype rhGH therapy |
| title | Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type |
| title_full | Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type |
| title_fullStr | Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type |
| title_full_unstemmed | Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type |
| title_short | Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type |
| title_sort | case report recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia kondo fu type |
| topic | spondyloepiphyseal dysplasia Kondo-Fu type MBTPS1 genotype phenotype rhGH therapy |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1068718/full |
| work_keys_str_mv | AT conglichen casereportrecombinanthumangrowthhormonetherapyinapatientwithspondyloepiphysealdysplasiakondofutype AT conglichen casereportrecombinanthumangrowthhormonetherapyinapatientwithspondyloepiphysealdysplasiakondofutype AT jinwu casereportrecombinanthumangrowthhormonetherapyinapatientwithspondyloepiphysealdysplasiakondofutype AT jinwu casereportrecombinanthumangrowthhormonetherapyinapatientwithspondyloepiphysealdysplasiakondofutype AT yingliu casereportrecombinanthumangrowthhormonetherapyinapatientwithspondyloepiphysealdysplasiakondofutype AT yingliu casereportrecombinanthumangrowthhormonetherapyinapatientwithspondyloepiphysealdysplasiakondofutype |