A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations

Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion. Here, we describe a male patient harborin...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2015-08, Vol.167A (8), p.1865-1871
Main Authors: Bravo-Oro, Antonio, Lurie, Iosif W., Elizondo-Cárdenas, Gabriela, Peña-Zepeda, Claudia, Salazar-Martínez, Abel, Correa-González, Cecilia, Castrillo, José Luis, Avila, Silvia, Esmer, Carmen
Format: Article
Language:English
Subjects:
2q22.3 q23.3 deletion
aplastic anemia
array-comparative genomic hybridization (CGH)
Bone and Bones - abnormalities
brachydactyly A1
Chromosome Deletion
Chromosomes, Human, Pair 2
Comparative Genomic Hybridization
Epilepsy - genetics
hirschsprung disease
Humans
Infant, Newborn
Male
Red-Cell Aplasia, Pure - genetics
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Summary:Many chromosomal deletions encompassing the 2q23.1 region have been described ranging from small deletions of 38 kb up to >19 Mb. Most phenotypic features of the 2q23.1 deletion syndrome are due to a MBD5 gene loss independent of the size of the deletion. Here, we describe a male patient harboring a novel interstitial deletion encompassing the 2q22.3 q23.3 chromosomal region. Array‐CGH revealed a 7.1 Mb deletion causing haploinsufficiency of several genes including MBD5, ACVR2, KIF5C, and EPC2. This patient presents with additional findings to those already described in individuals who have deletions of MBD5 including toes absence of halluces, pure red cell aplasia, and intestinal aganglionosis. Interestingly, in the deleted region there are previously identified regulatory sequences which are located upstream to ZEB2, which is associated with Hirschsprung disease (HSCR). Several genes have been associated with pure red cell aplasia, but to our knowledge, this is the first time that 2q deletion is associated with this phenotype. These additional findings should be added to the list of manifestations associated with 2q deletion, and provide support for the hypothesis that this individual has a true contiguous gene deletion syndrome. © 2015 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36806