title: A novel interstitial deletion of 2q22.3 q23.3 in a patient with dysmorphic features, epilepsy, aganglionosis, pure red cell aplasia, and skeletal malformations.
abstract: 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.
authors.affiliation: Hospital Central "Dr. Ignacio Morones Prieto", San Luis Potosí, Mexico.
authors.forename: Antonio
authors.initials: A
authors.lastname: Bravo-Oro
authors.affiliation: Chromosome Disorder Outreach, Boca Raton, Florida, USA.
authors.forename: Iosif W
authors.initials: IW
authors.lastname: Lurie
authors.affiliation: Universidad Autónoma de Nuevo León, Monterrey, Mexico.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Elizondo-Cárdenas
authors.affiliation: Hospital Central "Dr. Ignacio Morones Prieto", San Luis Potosí, Mexico.
authors.forename: Claudia
authors.initials: C
authors.lastname: Peña-Zepeda
authors.affiliation: Hospital Central "Dr. Ignacio Morones Prieto", San Luis Potosí, Mexico.
authors.forename: Abel
authors.initials: A
authors.lastname: Salazar-Martínez
authors.affiliation: Hospital Central "Dr. Ignacio Morones Prieto", San Luis Potosí, Mexico.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Correa-González
authors.affiliation: Laboratorio Genetadi Biotech, Bizkaia, Spain.
authors.forename: José Luis
authors.initials: JL
authors.lastname: Castrillo
authors.affiliation: Laboratorio Genetadi Biotech, Bizkaia, Spain.
authors.forename: Silvia
authors.initials: S
authors.lastname: Avila
authors.affiliation: Hospital Central "Dr. Ignacio Morones Prieto", San Luis Potosí, Mexico.
authors.forename: Carmen
authors.initials: C
authors.lastname: Esmer
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities*; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012010:Red-Cell Aplasia, Pure / Q000235:genetics*
keywords: 2q22.3 q23.3 deletion; aplastic anemia; array-comparative genomic hybridization (CGH); brachydactyly A1; hirschsprung disease