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Characterization of...
Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype
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Palomares, Maria (författare)
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Delicado, Alicia (författare)
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Mansilla, Elena (författare)
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visa fler...
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Luisa de Torres, Maria (författare)
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Vallespin, Elena (författare)
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Fernandez, Luis (författare)
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Martinez-Glez, Victor (författare)
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Garcia-Minaur, Sixto (författare)
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Nevado, Julian (författare)
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Santos Simarro, Fernando (författare)
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Ruiz-Perez, Victor L. (författare)
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Lynch, Sally Ann (författare)
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Sharkey, Freddie H. (författare)
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- Thuresson, Ann-Charlotte (författare)
- Uppsala universitet,Medicinsk genetik,Annerén
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- Annerén, Göran (författare)
- Uppsala universitet,Medicinsk genetik,Annerén
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Belligni, Elga F. (författare)
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Luisa Martinez-Fernandez, Maria (författare)
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Bermejo, Eva (författare)
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Nowakowska, Beata (författare)
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Kutkowska-Kazmierczak, Anna (författare)
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Bocian, Ewa (författare)
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Obersztyn, Ewa (författare)
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Luisa Martinez-Frias, Maria (författare)
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Hennekam, Raoul C. M. (författare)
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Lapunzina, Pablo (författare)
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(creator_code:org_t)
- Elsevier BV, 2011
- 2011
- Engelska.
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 89:2, s. 295-301
- Relaterad länk:
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http://www.cell.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and consisted of a round face with full cheeks, a high forehead, ptosis, cornea opacities, an underdeveloped alae, a short philtrum, a cupid's bow of the upper lip, down-turned corners of the mouth, micrognathia, low-set and prominent ears, and mild finger and toe anomalies (camptodactyly, syndactyly, and broadening of the first rays). Intellectual disability, hypotonia, decreased balance, sensorineural hearing loss, and unusual behavior were frequently observed. A high-resolution oligonucleotide array showed different proximal and distal breakpoints in all of the individuals. Sequencing studies in three of the individuals revealed that proximal and distal breakpoints were located in unique sequences with no apparent homology. The smallest region of overlap was a 539.7 kb interval encompassing three genes: a Zinc Finger Homeobox 4 (ZFHX4), one microRNA of unknown function, and one nonfunctional pseudogen. ZFHX4 encodes a transcription factor expressed in the adult human brain, skeletal muscle, and liver. It has been suggested as a candidate gene for congenital bilateral isolated ptosis. Our results suggest that the 8q21.11 submicroscopic deletion represents a clinically recognizable entity and that a haploinsufficient gene or genes within the minimal deletion region could underlie this syndrome.
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Palomares, Maria
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Delicado, Alicia
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Mansilla, Elena
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Luisa de Torres, ...
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Vallespin, Elena
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Fernandez, Luis
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visa fler...
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Martinez-Glez, V ...
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Garcia-Minaur, S ...
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Nevado, Julian
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Santos Simarro, ...
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Ruiz-Perez, Vict ...
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Lynch, Sally Ann
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Sharkey, Freddie ...
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Thuresson, Ann-C ...
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Annerén, Göran
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Belligni, Elga F ...
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Luisa Martinez-F ...
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Bermejo, Eva
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Nowakowska, Beat ...
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Kutkowska-Kazmie ...
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Bocian, Ewa
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Obersztyn, Ewa
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Luisa Martinez-F ...
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Hennekam, Raoul ...
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Lapunzina, Pablo
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Uppsala universitet