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

BMC Medical Genetics
M GiordanoM Bozzola

Abstract

Deletions 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. 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). Correlation 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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Citations

Jan 10, 2018·Frontiers in Aging Neuroscience·Lourdes Rodríguez-de la RosaIsabel Varela-Nieto
Jan 11, 2019·Clinical Genetics·Jair TenorioPablo Lapunzina
Feb 7, 2020·Journal of Neuroscience Research·Tanika T WilliamsonRobert D Frisina
Jul 12, 2019·Frontiers in Neuroscience·Evelyn ChukwurahSofia B Lizarraga

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