title: SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome.
abstract: OBJECTIVE
  The Mayer-Rokitansky-Küster-Hauser syndrome is defined as congenital aplasia of müllerian ducts derived structures in females with a normal female chromosomal and gonadal sex. Most cases with Mayer-Rokitansky-Küster-Hauser syndrome are sporadic, although familial cases have been reported. The genetic basis of Mayer-Rokitansky-Küster-Hauser syndrome is largely unknown and seems heterogeneous, and a small number of cases were found to have mutations in the WNT4 gene. The aim of this study was to identify possible recurrent submicroscopic imbalances in a cohort of familial and sporadic cases with Mayer-Rokitansky-Küster-Hauser syndrome.
  
  
  METHODS
  Multiplex ligation-dependent probe amplification was used to screen the subtelomeric sequences of all chromosomes in 30 patients with Mayer-Rokitansky-Küster-Hauser syndrome (sporadic, n = 27 and familial, n = 3). Segregation analysis and pyrosequencing were applied to validate the MLPA results in the informative family.
  
  
  RESULTS
  Partial duplication of the Xpter pseudoautosomal region 1 containing the short stature homeobox (SHOX) gene was detected in five patients with Mayer-Rokitansky-Küster-Hauser syndrome (familial, n = 3 and sporadic, n = 2) and not in 53 healthy controls. The duplications were not overlapping, and SHOX was never entirely duplicated. Haplotyping in the informative family revealed that SHOX gene duplication was inherited from the unaffected father and was absent in two healthy sisters.
  
  
  CONCLUSIONS
  Partial duplication of SHOX gene is found in some cases with both familial and sporadic Mayer-Rokitansky-Küster-Hauser type I syndrome.
authors.affiliation: Medical Genetics, Department of Medicine, Surgery and Dentistry, Università degli Studi di Milano, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Gervasini
authors.forename: Francesca Romana
authors.initials: FR
authors.lastname: Grati
authors.forename: Faustina
authors.initials: F
authors.lastname: Lalatta
authors.forename: Silvia
authors.initials: S
authors.lastname: Tabano
authors.forename: Barbara
authors.initials: B
authors.lastname: Gentilin
authors.forename: Patrizia
authors.initials: P
authors.lastname: Colapietro
authors.forename: Simona
authors.initials: S
authors.lastname: De Toffol
authors.forename: Giada
authors.initials: G
authors.lastname: Frontino
authors.forename: Francesca
authors.initials: F
authors.lastname: Motta
authors.forename: Silvia
authors.initials: S
authors.lastname: Maitz
authors.forename: Laura
authors.initials: L
authors.lastname: Bernardini
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Luigi
authors.initials: L
authors.lastname: Fedele
authors.forename: Lidia
authors.initials: L
authors.lastname: Larizza
authors.forename: Monica
authors.initials: M
authors.lastname: Miozzo
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000235:genetics; D000015:Abnormalities, Multiple / Q000235:genetics; D000568:Amenorrhea / Q000209:etiology / Q000235:genetics; D001483:Base Sequence; D015331:Cohort Studies; D000013:Congenital Abnormalities; D005260:Female; D020440:Gene Duplication; D005820:Genetic Testing; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007668:Kidney / Q000002:abnormalities; D008297:Male; D025202:Molecular Diagnostic Techniques; D009095:Mullerian Ducts / Q000002:abnormalities*; D021141:Nucleic Acid Amplification Techniques; D000074122:Short Stature Homeobox Protein; D019170:Somites / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein