Genetic Modifiers of the Physical Malformations in Velo-Cardio-Facial Syndrome/DiGeorge Syndrome

Autor/inn/en	Aggarwal, Vimla S.; Morrow, Bernice E.
Titel	Genetic Modifiers of the Physical Malformations in Velo-Cardio-Facial Syndrome/DiGeorge Syndrome
Quelle	In: Developmental Disabilities Research Reviews, 14 (2008) 1, S.19-25 (7 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1940-5510
DOI	10.1002/ddrr.4
Schlagwörter	Patients; Genetics; Etiology; Genetic Disorders; Human Body; Animals; Symptoms (Individual Disorders); Research; Physical Disabilities; Anatomy + Suchen Sie Ihr Suchwort? Patient; Humangenetik; Ätiologie; Menschlicher Körper; Animal; Tier; Tiere; Psychiatrische Symptomatik; Forschung; Physical handicap; Körperbehinderung; Anatomie
Abstract	Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients have a similar hemizygous 3 million base pair deletion on 22q11.2. Studies in mouse have shown that "Tbx1", a T-box containing transcription factor present on the deleted region, is likely responsible for the etiology of the syndrome. Furthermore, mutations in "TBX1" have been found in rare non-deleted patients. Despite having the same sized deletion, most VCFS/DGS patients exhibit significant clinical variability. Stochastic, environmental and genetic factors likely modify the phenotype of patients with the disorder. Here, we review mouse genetics studies, which may help identify possible genetic modifiers for the physical malformations in VCFS/DGS. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2017/4/10