Gazdagh, G., Tobias, E. S. , Ahmed, S. F. and McGowan, R. (2016) Novel genetic associations and range of phenotypes in children with disorders of sex development and neurodevelopment: insights from the deciphering developmental disorders study. Sexual Development, 10(3), pp. 130-135. (doi: 10.1159/000447958) (PMID:27598577) (PMCID:PMC5079067)
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Abstract
A range of phenotypes that are associated with disorders of sex development (DSD) may also be encountered in patients with neurodevelopmental delay. In this study we have undertaken a collaborative retrospective review of anonymised phenotypic and genotypic data from the UK-wide Deciphering Developmental Disorders (DDD) study. Our objectives were to determine the frequency and range of DSD phenotypes observed in participants in the DDD study and to identify novel genetic associations. We found that of 7,439 DDD participants, 603 (8%) had at least one genital abnormality. In addition, we found that DSD occurs in 5% of patients with learning difficulties. Causative mutations were found in 13 developmental genes, of which, crucially, 6 had no previous reported association with DSD. Our findings indicate that recognition of these associations should not be overlooked in the management of patients with complex conditions and that exomic sequencing through projects like DDD increases diagnostic yield.
| Item Type: | Articles |
|---|---|
| Status: | Published |
| Refereed: | Yes |
| Glasgow Author(s) Enlighten ID: | McGowan, Ruth and Tobias, Professor Edward and Gazdagh, Dr Gabriella and Ahmed, Professor Syed Faisal |
| Authors: | Gazdagh, G., Tobias, E. S., Ahmed, S. F., and McGowan, R. |
| Subjects: | Q Science > QH Natural history > QH426 Genetics R Medicine > RJ Pediatrics |
| College/School: | College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing |
| Journal Name: | Sexual Development |
| Publisher: | Karger Publishers |
| ISSN: | 1661-5425 |
| ISSN (Online): | 1661-5433 |
| Published Online: | 02 September 2016 |
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