title: Severe sex differentiation disorder in a boy with a 3.8 Mb 10q25.3-q26.12 microdeletion encompassing EMX2.
abstract: The molecular basis of male disorders of sex development (DSD) remains unexplained in a large number of cases. EMX2 has been proposed to play a role in the masculinization process for the past two decades, but formal evidence for this causal role is scarce. The aim of this study is to yield additional support to this hypothesis by reporting on a male patient who presented with 46,XY DSD, a single kidney, intellectual disability, and the smallest microdeletion including EMX2 reported to date. EMX2 haploinsufficiency is likely to explain the masculinization defect observed in our patient, similar to what has been described in the mouse. In the case of cytogenetically diagnosed cases, deletions of EMX2 have been associated with a wide range of DSD, ranging from hypospadias to complete sex reversal.
authors: Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
authors: Juliette
authors: J
authors: Piard
authors: Brigitte
authors: B
authors: Mignot
authors: Francine
authors: F
authors: Arbez-Gindre
authors: Didier
authors: D
authors: Aubert
authors: Yves
authors: Y
authors: Morel
authors: Virginie
authors: V
authors: Roze
authors: Kenneth
authors: K
authors: McElreavy
authors: Philippe
authors: P
authors: Jonveaux
authors: Mylène
authors: M
authors: Valduga
authors: Lionel
authors: L
authors: Van Maldergem
mesh_terms: D002675:Child, Preschool; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics; D012734:Disorders of Sex Development / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000099260:Empty Spiracles Homeobox Proteins
chemical_list: D018398:Homeodomain Proteins; D014157:Transcription Factors; D000099260:Empty Spiracles Homeobox Proteins
keywords: EMX2; EMX2 and DSD; intellectual disability and EMX2; microdeletion and DSD; sex differentiation disorder