A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked disorder resulting from mutations in the genes GPC3 or GPC4. Symptoms of SGBS vary but commonly include overgrowth, craniofacial dysmorphias, and multiple birth defects. This syndrome has 2 subtypes, known as type I and type II. This report pr...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Termedia Publishing House
2023-09-01
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| Series: | Pediatria Polska |
| Subjects: | |
| Online Access: | https://www.termedia.pl/A-rare-case-of-family-suffering-from-Simpson-Golabi-Behmel-syndrome-with-an-uncommon-manifestation-in-a-mother-and-2-sons,127,51499,1,1.html |
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| author | Kamil Możdżeń Agnieszka Murawska Julia Hypnar Edward Pędziwiatr Jakub Pośpiech Kinga Kowalska-Duplaga |
| author_facet | Kamil Możdżeń Agnieszka Murawska Julia Hypnar Edward Pędziwiatr Jakub Pośpiech Kinga Kowalska-Duplaga |
| author_sort | Kamil Możdżeń |
| collection | DOAJ |
| description | Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked disorder resulting from mutations in the genes GPC3 or GPC4. Symptoms of SGBS vary but commonly include overgrowth, craniofacial dysmorphias, and multiple birth defects. This syndrome has 2 subtypes, known as type I and type II. This report presents a case of SGBS occurring in several members of the same family, showing varying symptoms, including an 8-year-old boy, his older brother, mother, and mother’s maternal half-brother. Exome sequencing identified the c.1159C > T variant of the GPC3 gene in all members of the family mentioned above. Family history suggests that the maternal grandmother of the reported boys also presented symptoms of SGBS, although she was never tested. The purpose of this study is to present various clinical manifestations of SGBS, which may assist clinicians. We also note the manifestation of SGBS in a female because it is uncommon for carriers of the gene to present symptoms. |
| first_indexed | 2024-04-24T11:29:13Z |
| format | Article |
| id | doaj.art-c20ed81942b7496391c24e10b673de94 |
| institution | Directory Open Access Journal |
| issn | 0031-3939 2300-8660 |
| language | English |
| last_indexed | 2024-04-24T11:29:13Z |
| publishDate | 2023-09-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatria Polska |
| spelling | doaj.art-c20ed81942b7496391c24e10b673de942024-04-10T12:29:00ZengTermedia Publishing HousePediatria Polska0031-39392300-86602023-09-01991778310.5114/polp.2023.13154651499A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sonsKamil MożdżeńAgnieszka MurawskaJulia HypnarEdward PędziwiatrJakub PośpiechKinga Kowalska-DuplagaSimpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked disorder resulting from mutations in the genes GPC3 or GPC4. Symptoms of SGBS vary but commonly include overgrowth, craniofacial dysmorphias, and multiple birth defects. This syndrome has 2 subtypes, known as type I and type II. This report presents a case of SGBS occurring in several members of the same family, showing varying symptoms, including an 8-year-old boy, his older brother, mother, and mother’s maternal half-brother. Exome sequencing identified the c.1159C > T variant of the GPC3 gene in all members of the family mentioned above. Family history suggests that the maternal grandmother of the reported boys also presented symptoms of SGBS, although she was never tested. The purpose of this study is to present various clinical manifestations of SGBS, which may assist clinicians. We also note the manifestation of SGBS in a female because it is uncommon for carriers of the gene to present symptoms.https://www.termedia.pl/A-rare-case-of-family-suffering-from-Simpson-Golabi-Behmel-syndrome-with-an-uncommon-manifestation-in-a-mother-and-2-sons,127,51499,1,1.htmlsimpson-golabi-behmel syndrome sgbs congenital malformation syndrome gpc3 gene mutation excessive growth. |
| spellingShingle | Kamil Możdżeń Agnieszka Murawska Julia Hypnar Edward Pędziwiatr Jakub Pośpiech Kinga Kowalska-Duplaga A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons Pediatria Polska simpson-golabi-behmel syndrome sgbs congenital malformation syndrome gpc3 gene mutation excessive growth. |
| title | A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons |
| title_full | A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons |
| title_fullStr | A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons |
| title_full_unstemmed | A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons |
| title_short | A rare case of family suffering from Simpson-Golabi-Behmel syndrome with an uncommon manifestation in a mother and 2 sons |
| title_sort | a rare case of family suffering from simpson golabi behmel syndrome with an uncommon manifestation in a mother and 2 sons |
| topic | simpson-golabi-behmel syndrome sgbs congenital malformation syndrome gpc3 gene mutation excessive growth. |
| url | https://www.termedia.pl/A-rare-case-of-family-suffering-from-Simpson-Golabi-Behmel-syndrome-with-an-uncommon-manifestation-in-a-mother-and-2-sons,127,51499,1,1.html |
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