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De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.
De novo deletion of HOXB gene cluster in a patient with failure to thrive, developmental delay, gastroesophageal reflux and bronchiectasis.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2015 Jun-Jul; Vol. 58 (6-7), pp. 336-40. Date of Electronic Publication: 2015 Apr 20. - Publication Year :
- 2015
-
Abstract
- We report a female patient with a complex phenotype consisting of failure to thrive, developmental delay, congenital bronchiectasis, gastroesophageal reflux and bilateral inguinal hernias. Chromosomal microarray analysis revealed a 230 kilobase deletion in chromosomal region 17q21.32 (arr[hg19] 17q21.32(46 550 362-46 784 039)×1) encompassing only 9 genes - HOXB1 to HOXB9. The deletion was not found in her mother or father. This is the first report of a patient with a HOXB gene cluster deletion involving only HOXB1 to HOXB9 genes. By comparing our case to previously reported five patients with larger chromosomal aberrations involving the HOXB gene cluster, we can suppose that HOXB gene cluster deletions are responsible for growth retardation, developmental delay, and specific facial dysmorphic features. Also, we suppose that bilateral inguinal hernias, tracheo-esophageal abnormalities, and lung malformations represent features with incomplete penetrance. Interestingly, previously published knock-out mice with targeted heterozygous deletion comparable to our patient did not show phenotypic alterations.<br /> (Copyright © 2015 Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Bronchiectasis diagnosis
Developmental Disabilities diagnosis
Failure to Thrive diagnosis
Female
Gastroesophageal Reflux diagnosis
Humans
Infant
Syndrome
Bronchiectasis genetics
Developmental Disabilities genetics
Failure to Thrive genetics
Gastroesophageal Reflux genetics
Gene Deletion
Homeodomain Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 58
- Issue :
- 6-7
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 25907420
- Full Text :
- https://doi.org/10.1016/j.ejmg.2015.04.002