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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.

Giordano M, Gertosio C, Pagani S, Meazza C, Fusco I, Bozzola E, Bozzola M - BMC Med. Genet. (2015)

Bottom Line: 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).

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, 28100, Novara, Italy. giordano@med.unipmn.it.

ABSTRACT

Background: 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.

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).

Conclusion: 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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Related in: MedlinePlus

Xq21.1 Deletion. a Graphic representation of part of Xq (corresponding to the region included in the dotted box) with protein coding genes included in this region. The deletion at Xq21.1 detected in our patient (ChrX:77.456.818x1,77.489.632-83.255.802x0,83.287.869x1) is represented by a red rectangle above the boxed region. b Schematic representation of the Xq21.1 deleted region (in red) in our patient and other deletions reported in the Decipher and ISCA database in male patients (in black) and female patients (in grey). The ID of each patient is reported. The clinical features of the patients are reported in parentheses below the corresponding deletion as described in Decipher (https://decipher.sanger.ac.uk/) and ISCA (https://iscaconsortium.org/)
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Fig4: Xq21.1 Deletion. a Graphic representation of part of Xq (corresponding to the region included in the dotted box) with protein coding genes included in this region. The deletion at Xq21.1 detected in our patient (ChrX:77.456.818x1,77.489.632-83.255.802x0,83.287.869x1) is represented by a red rectangle above the boxed region. b Schematic representation of the Xq21.1 deleted region (in red) in our patient and other deletions reported in the Decipher and ISCA database in male patients (in black) and female patients (in grey). The ID of each patient is reported. The clinical features of the patients are reported in parentheses below the corresponding deletion as described in Decipher (https://decipher.sanger.ac.uk/) and ISCA (https://iscaconsortium.org/)

Mentions: The array-CGH analysis, performed at the age of 13 years, revealed the presence of an interstitial deletion at Xq21.1 (77.456.818x1,77.489.632-83.255.802x0,83.287.869x1), of approximately 5.8 Mb (Fig. 4). The same deletion was present at the heterozygous state in the mother.Fig. 4


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.

Giordano M, Gertosio C, Pagani S, Meazza C, Fusco I, Bozzola E, Bozzola M - BMC Med. Genet. (2015)

Xq21.1 Deletion. a Graphic representation of part of Xq (corresponding to the region included in the dotted box) with protein coding genes included in this region. The deletion at Xq21.1 detected in our patient (ChrX:77.456.818x1,77.489.632-83.255.802x0,83.287.869x1) is represented by a red rectangle above the boxed region. b Schematic representation of the Xq21.1 deleted region (in red) in our patient and other deletions reported in the Decipher and ISCA database in male patients (in black) and female patients (in grey). The ID of each patient is reported. The clinical features of the patients are reported in parentheses below the corresponding deletion as described in Decipher (https://decipher.sanger.ac.uk/) and ISCA (https://iscaconsortium.org/)
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4593198&req=5

Fig4: Xq21.1 Deletion. a Graphic representation of part of Xq (corresponding to the region included in the dotted box) with protein coding genes included in this region. The deletion at Xq21.1 detected in our patient (ChrX:77.456.818x1,77.489.632-83.255.802x0,83.287.869x1) is represented by a red rectangle above the boxed region. b Schematic representation of the Xq21.1 deleted region (in red) in our patient and other deletions reported in the Decipher and ISCA database in male patients (in black) and female patients (in grey). The ID of each patient is reported. The clinical features of the patients are reported in parentheses below the corresponding deletion as described in Decipher (https://decipher.sanger.ac.uk/) and ISCA (https://iscaconsortium.org/)
Mentions: The array-CGH analysis, performed at the age of 13 years, revealed the presence of an interstitial deletion at Xq21.1 (77.456.818x1,77.489.632-83.255.802x0,83.287.869x1), of approximately 5.8 Mb (Fig. 4). The same deletion was present at the heterozygous state in the mother.Fig. 4

Bottom Line: 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).

View Article: PubMed Central - PubMed

Affiliation: Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, 28100, Novara, Italy. giordano@med.unipmn.it.

ABSTRACT

Background: 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.

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).

Conclusion: 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.

Show MeSH
Related in: MedlinePlus