| Title: |
Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management |
| Authors: |
Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G.; Curry, C.J.; Merrer, M.L.; Luyer, B.L.; Héron, D.; Mathieu‐Dramard, M.; Bitoun, P.; Odent, S.; Amiel, J.; Kuentz, P.; Thevenon, J.; Laville, M.; Reznik, Y.; Fagour, C.; Nunes, M.‐L.; Delesalle, D.; Manouvrier, S.; Lascols, O.; Huet, F.; Binquet, C.; Faivre, L.; Rivière, J.‐B.; Vigouroux, C.; Njølstad, P.R.; Innes, A.M.; Thauvin‐Robinet, C. |
| Contributors: |
Genome Canada; Canadian Institutes of Health Research; Ontario Genomics Institute; Ontario Research Fund; Genome Quebec; Children's Hospital of Eastern Ontario Foundation; Research Council of Norway; The University of Bergen; ERC Advanced Grant; Helse Vest; KG Jebsen Foundation |
| Source: |
Clinical Genetics ; volume 89, issue 4, page 501-506 ; ISSN 0009-9163 1399-0004 |
| Publisher Information: |
Wiley |
| Publication Year: |
2015 |
| Collection: |
Wiley Online Library (Open Access Articles via Crossref) |
| Description: |
SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had four or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included intrauterine growth restriction ( IUGR ) |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1111/cge.12688 |
| Availability: |
https://doi.org/10.1111/cge.12688; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12688; https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12688 |
| Rights: |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
| Accession Number: |
edsbas.3E6671F2 |
| Database: |
BASE |