NDLI: Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

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Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Mitter, Diana Chiaie, Barbara Delle Lüdecke, Hermann-Josef Gillessen-Kaesbach, Gabriele Bohring, Axel Kohlhase, Jürgen Caliebe, Almuth Siebert, Reiner Roepke, Albrecht Ramos-Arroyo, Maria A. Nieva, Beatriz Menten, Björn Loeys, Bart Mortier, Geert Wieczorek, Dagmar
Description	Country affiliation: Germany Author Affiliation: Mitter D ( Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany. diana.mitter@uni-due.de)
Abstract	Microdeletions of the 2q31.1 region are rare. We present the clinical and molecular findings of eight previously unreported patients with overlapping deletions in 2q31.1. The patients have a variable clinical phenotype and present with developmental delay (7/8), growth retardation (5/8), seizures (2/8) and a craniofacial dysmorphism consisting of microcephaly (4/8), short palpebral fissures (7/8), broad eyebrows with lateral flare (7/8), low-set ears with thickened helices and lobules (5/8), and micrognathia (6/8). Additional congenital anomalies were noted, including limb abnormalities (8/8), heart defects (3/8), genital anomalies (3/8), and craniosynostosis (1/8). Six of these microdeletions, ranging in size from 1.24 to 8.35 Mb, were identified by array CGH, one larger deletion (19.7 Mb) was detected by conventional karyotyping and further characterized by array CGH analysis. The smallest region of overlap in all eight patients spans at most 88 kb and includes only the WIPF1 gene. This gene codes for the WAS/WASL interacting protein family member 1. The patients described here do not present with clinical signs of the Wiskott-Aldrich syndrome and the deletion of this single gene does not allow explaining the phenotype in our patients. It is likely that the deletion of different but overlapping sets of genes from 2q31 is responsible for the clinical variability in these patients. To further dissect the complex phenotype associated with deletions in 2q31, additional patients with overlapping phenotypes should be examined with array CGH. This should help to link particular phenotypes to specific genes, and add to our understanding of the underlying developmental processes.
File Format	HTM / HTML
ISSN	15524825
Issue Number	5
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-05-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Chromosome Deletion Chromosomes, Human, Pair 2 Genetics Genetic Association Studies Adult Child Child, Preschool Chromosome Breakage Comparative Genomic Hybridization Female Foot Deformities, Congenital Complications Hand Deformities, Congenital Humans Infant Infant, Newborn Karyotyping Male Pregnancy Radiography Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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