Genetic syndromes associated with overgrowth in childhood
Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Korean Society of Pediatric Endocrinology
2013-09-01
|
| Series: | Annals of Pediatric Endocrinology & Metabolism |
| Subjects: | |
| Online Access: | http://e-apem.org/upload/pdf/apem-18-101.pdf |
| _version_ | 1819054237743579136 |
|---|---|
| author | Jung Min Ko |
| author_facet | Jung Min Ko |
| author_sort | Jung Min Ko |
| collection | DOAJ |
| description | Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future. |
| first_indexed | 2024-12-21T12:48:26Z |
| format | Article |
| id | doaj.art-3bc34a1e54b246c0808923832cebe64b |
| institution | Directory Open Access Journal |
| issn | 2287-1012 2287-1292 |
| language | English |
| last_indexed | 2024-12-21T12:48:26Z |
| publishDate | 2013-09-01 |
| publisher | Korean Society of Pediatric Endocrinology |
| record_format | Article |
| series | Annals of Pediatric Endocrinology & Metabolism |
| spelling | doaj.art-3bc34a1e54b246c0808923832cebe64b2022-12-21T19:03:33ZengKorean Society of Pediatric EndocrinologyAnnals of Pediatric Endocrinology & Metabolism2287-10122287-12922013-09-0118310110510.6065/apem.2013.18.3.101502Genetic syndromes associated with overgrowth in childhoodJung Min Ko0Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future.http://e-apem.org/upload/pdf/apem-18-101.pdfMacrosomiaSotos syndromeBeckwith-Wiedemann syndromegenomic imprinting |
| spellingShingle | Jung Min Ko Genetic syndromes associated with overgrowth in childhood Annals of Pediatric Endocrinology & Metabolism Macrosomia Sotos syndrome Beckwith-Wiedemann syndrome genomic imprinting |
| title | Genetic syndromes associated with overgrowth in childhood |
| title_full | Genetic syndromes associated with overgrowth in childhood |
| title_fullStr | Genetic syndromes associated with overgrowth in childhood |
| title_full_unstemmed | Genetic syndromes associated with overgrowth in childhood |
| title_short | Genetic syndromes associated with overgrowth in childhood |
| title_sort | genetic syndromes associated with overgrowth in childhood |
| topic | Macrosomia Sotos syndrome Beckwith-Wiedemann syndrome genomic imprinting |
| url | http://e-apem.org/upload/pdf/apem-18-101.pdf |
| work_keys_str_mv | AT jungminko geneticsyndromesassociatedwithovergrowthinchildhood |