Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature
Abstract Biallelic IGFALS variants lead to acid‒labile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth N-glycosylation motif (c.1103_1108del, p.N368_S370de...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-07-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00285-w |
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| author | Hibiki Doi Ikuko Kageyama Yuko Katoh-Fukui Atsushi Hattori Maki Fukami Naoto Shimura |
| author_facet | Hibiki Doi Ikuko Kageyama Yuko Katoh-Fukui Atsushi Hattori Maki Fukami Naoto Shimura |
| author_sort | Hibiki Doi |
| collection | DOAJ |
| description | Abstract Biallelic IGFALS variants lead to acid‒labile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth N-glycosylation motif (c.1103_1108del, p.N368_S370delinsT) associated with parental consanguinity. He showed short stature consistent with ALS deficiency. This case expands the mutation spectrum of IGFALS to include the elimination of only one N-glycosylation motif of ALS. |
| format | Article |
| id | doaj-art-e3ea706333054b0d843a826af12fab5a |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-07-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-e3ea706333054b0d843a826af12fab5a2025-01-19T12:15:43ZengNature Publishing GroupHuman Genome Variation2054-345X2024-07-011111310.1038/s41439-024-00285-wHomozygous 6-bp deletion of IGFALS in a prepubertal boy with short statureHibiki Doi0Ikuko Kageyama1Yuko Katoh-Fukui2Atsushi Hattori3Maki Fukami4Naoto Shimura5Department of Molecular Endocrinology, National Research Institute for Child Health and DevelopmentDepartment of Molecular Endocrinology, National Research Institute for Child Health and DevelopmentDepartment of Molecular Endocrinology, National Research Institute for Child Health and DevelopmentDepartment of Molecular Endocrinology, National Research Institute for Child Health and DevelopmentDepartment of Molecular Endocrinology, National Research Institute for Child Health and DevelopmentDepartment of Pediatrics, Tokyo Rinkai HospitalAbstract Biallelic IGFALS variants lead to acid‒labile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth N-glycosylation motif (c.1103_1108del, p.N368_S370delinsT) associated with parental consanguinity. He showed short stature consistent with ALS deficiency. This case expands the mutation spectrum of IGFALS to include the elimination of only one N-glycosylation motif of ALS.https://doi.org/10.1038/s41439-024-00285-w |
| spellingShingle | Hibiki Doi Ikuko Kageyama Yuko Katoh-Fukui Atsushi Hattori Maki Fukami Naoto Shimura Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature Human Genome Variation |
| title | Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature |
| title_full | Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature |
| title_fullStr | Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature |
| title_full_unstemmed | Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature |
| title_short | Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature |
| title_sort | homozygous 6 bp deletion of igfals in a prepubertal boy with short stature |
| url | https://doi.org/10.1038/s41439-024-00285-w |
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