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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance
Jill Clayton-Smith1, Sarah Walters, Emma Hobson
1Medical Genetics Research Group and Regional Genetics Service, St Mary's Hospital, Manchester, UK. Jill.Clayton-Smith@cmmc.nhs.uk
European Journal of Human Genetics : EJHG
|October 16, 2008
Summary
Xq28 duplications involving MECP2 and other genes cause severe neurodevelopmental disorders in males. Duplication of Filamin A (FLNA) may specifically cause intestinal and bladder issues in affected individuals.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Molecular Biology
Background:
- Xq28 duplications encompassing the MECP2 gene are linked to severe neurodevelopmental disorders in males.
- Symptoms include hypotonia, spasticity, learning disabilities, and recurrent pneumonia.
Observation:
- We identified Xq28 duplications in multiple families with affected males.
- Patients presented with similar dysmorphic facial features, intestinal pseudo-obstruction, or bladder distension.
Findings:
- Five families showed duplications of the Xq28 region including MECP2, SLC6A8, L1CAM, and Filamin A (FLNA).
- Two families had intragenic duplications solely of FLNA.
- The study correlates specific genes within the duplication to distinct phenotypic features.
Implications:
- Duplication of FLNA is proposed as a potential cause for the observed bowel and bladder dysfunction.
- This research clarifies genotype-phenotype correlations in Xq28 duplication syndromes.
- Further investigation into FLNA's role in gastrointestinal and urinary systems is warranted.
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