ArticleBMC medical genetics2015
A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 17 citations in OpenAlex.
- The emerging roles of ITM2A: At the molecular crossroads of development and pathogenesis.iScience · 2026Review
- A novel mutation of X-linked recessive deafness geneLaryngoscope investigative otolaryngology · 2022Article
- Review
- Turner Syndrome Associated With Refractory Seizures and Intellectual Disability: A Case Study.Cureus · 2020Article
- All Together Now: Modeling the Interaction of Neural With Non-neural Systems Using Organoid Models.Frontiers in neuroscience · 2019Review
- X-Linked Sensorineural Hearing Loss: A Literature Review.Current genomics · 2018Review
- The Role of Insulin-Like Growth Factor 1 in the Progression of Age-Related Hearing Loss.Frontiers in aging neuroscience · 2017Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDeletions of the long arm of chromosome X in males are a rare cause of X-linked intellectual disability. Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome. CASE PRESENTATION: In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH. This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development).
conclusionCorrelation between the clinical findings and the function of gene mapping within the deleted region confirms the causative role of this microrearrangement in our patient and provides new insight into a gene possibly involved in short stature.
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