Potocki–shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. Issue 2 (13th December 2013)

• Record Type: Journal Article
• Authors: Ferrarini, Alessandra; Gaillard, Muriel; Guerry, Frederic; Ramelli, Gianpaolo; Heidi, Fodstad; Keddache, Caroline Verley; Wieland, Ilse; Beckmann, Jacques S.; Jaquemont, Sébastien; Martinet, Danielle
• Is Part Of: American journal of medical genetics. Volume 164:Issue 2(2014.)
• Page Start: 346
• Page End: 352
• Publication Date: 2013-12-13
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36140
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>ABSTRACT</title> <sec id="ajmga36140-sec-0001" sec-type="section"> <p>Frontonasal dysplasia (FND) is a genetically heterogeneous malformation spectrum with marked hypertelorism, broad nasal tip and bifid nose. Only a small number of genes have been associated with FND phenotypes until now, the first gene being <italic>EFNB1</italic>, related to craniofrontonasal syndrome (CFNS) with craniosynostosis in addition, and more recently the aristaless‐like homeobox genes <italic>ALX3</italic>, <italic>ALX4</italic>, and <italic>ALX1</italic>, which have been related with distinct phenotypes named FND1, FND2, and FND3 respectively. We here report on a female patient presenting with severe FND features along with partial alopecia, hypogonadism and intellectual disability. While molecular investigations did not reveal mutations in any of the known genes, <italic>ALX4</italic>, <italic>ALX3</italic>, <italic>ALX1</italic> and <italic>EFNB1</italic>, comparative genomic hybridization (array CGH) techniques showed a large heterozygous de novo deletion at 11p11.12p12, encompassing the <italic>ALX4</italic> gene. Deletions in this region have been described in patients with Potocki–Shaffer syndrome (PSS), characterized by biparietal foramina, multiple exostoses, and intellectual disability. Although the patient reported herein manifests some overlapping features of FND and PPS, it is likely that the observed phenotype maybe due to a second unidentified mutation in the <italic>ALX4</italic> gene. The phenotype will be discussed in view of the deleted region encompassing the <italic>ALX4</italic> gene<bold>. © 2013 Wiley Periodicals, Inc.</bold></p> </sec> </abstract>