| Title | A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI. |
| Publication Type | Journal Article |
| Year of Publication | 2017 |
| Authors | Bertini V, Orsini A, Mazza R, Mandava V, Saggese G, Azzara' A, Bonuccelli A, Valetto A |
| Journal | Am J Med Genet A |
| Volume | 173 |
| Issue | 1 |
| Pagination | 280-284 |
| Date Published | 2017 Jan |
| ISSN | 1552-4833 |
| Keywords | Chromosome Deletion, Chromosomes, Human, Pair 3, Comparative Genomic Hybridization, Facies, Female, Genetic Association Studies, Humans, In Situ Hybridization, Fluorescence, Infant, Magnetic Resonance Imaging, Phenotype, RNA-Binding Proteins, Syndrome |
| Abstract | We report on a patient with a 6.5 Mb interstitial de novo deletion in 3q24q25.2, characterized by array CGH. The patient is a 4-year and 2-month-old girl, who presented to us with mild developmental delay, absence of language, facial dysmorphism, hirsutism, strabismus, and Dandy-Walker Malformation. The main clinical signs typical of WS (Wisconsin syndrome) are evident in the patient. The molecular mapping of WS in 3q23q25 allowed geneticists to define the syndrome more accurately. Comparing the present patient's phenotype with that of cases with a molecular characterization so far reported, it was possible to narrow the critical region for WS to an interval of 750 Kb, where two genes (MBNL1 and TMEM14E) are harbored. The potential role of MBNL1 in causing the WS phenotype is discussed. © 2016 Wiley Periodicals, Inc. |
| DOI | 10.1002/ajmg.a.38002 |
| Alternate Journal | Am. J. Med. Genet. A |
| PubMed ID | 27753286 |
Submitted by kej2006 on June 6, 2018 - 4:11pm