The Wiedemann-Steiner Syndrome and Hypertrichosis Study
Research type
Research Study
Full title
Genetic, Phenotypic and Cellular Characterisation of Wiedemann-Steiner syndrome and related disorders, including disorders associated with hypertrichosis
IRAS ID
153930
Contact name
Wendy Jones
Contact email
Sponsor organisation
Great Ormond Street Hospital / Institute of Child Health
Duration of Study in the UK
9 years, 0 months, 28 days
Research summary
Wiedemann-Steiner syndrome (WSS) is a rare genetic disorder associated with hypertrichosis (increased body hair), intellectual disability, short stature, feeding difficulties and a distinctive facial appearance.
In 2012 members of our group showed that mutations in a gene called KMT2A cause WSS. For families affected with a genetic disorder like WSS, identifying the genetic cause of their difficulties helps them understand their disorder and the risk of other family members being affected, and may provide the possibility of testing in future pregnancies. It also allows tailoring of medical management to their particular disorder and for families to connect with other affected families.
There are individuals with similar features to WSS or with hypertrichosis
(a feature very commonly observed in WSS, that was instrumental in finding the cause of WSS) who don’t have mutations in KMT2A and we hypothesise that there is likely to be a number of developmental disorders similar to WSS and / or associated with hypertrichosis that result from mutations in other genes that we have not identified yet. It is important for these disorders to be identified and defined and the management needs for these individuals established.We will be carrying out genome wide sequencing in order to diagnose more individuals with WSS and discover the underlying genetic cause of similar disorders and we will carry out detailed study of the physical, medical and cognitive and behavioural features seen in affected individuals to further understand these disorders and their management needs. We will also be generating Induced Pluripotent Stem cells in order to try to find out how mutations in KMT2A cause WSS and what other genes may be involved in similar disorders.
WSS is an inherited disorder associated with intellectual disability and we will involve children, their parents and adults with or without capacity in this study.
REC name
London - Camberwell St Giles Research Ethics Committee
REC reference
16/LO/0382
Date of REC Opinion
16 May 2016
REC opinion
Further Information Favourable Opinion