title: Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
abstract: OBJECTIVE
  To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS).
  
  
  METHODS
  Renal ultrasound scans and plasma creatinine measurements were collected from a French cohort of 94 patients with genotyped KS. Renal function was evaluated based on the estimated glomerular filtration rate. A genotype-phenotype study was conducted for renal and urinary tract malformations.
  
  
  RESULTS
  Renal malformations were present in 22% of cases, and urinary tract anomalies were present in 15%. Renal malformations were observed in 28% of the MLL2 mutation-positive group and in 0% of the MLL2 mutation-negative group (P = .015). No correlation was found between the presence or absence of renal or urinary tract malformations and the location or type of MLL2 mutation. Renal function was normal except for 1 patient with a MLL2 mutation diagnosed in the first days of life and severe renal disease due to unilateral renal agenesia and controlateral severe hypoplasia that progressed to the terminal stage at age 2 years.
  
  
  CONCLUSIONS
  Our study emphasizes the need for ultrasound and renal function screening in children diagnosed with KS.
authors.affiliation: Pediatrics 1 and Medical Genetics, Center of Reference for Developmental Abnormalities and Malformative Syndromes, Children's Hospital, University of Burgundy, Dijon, France.
authors.forename: Jean-Benoît
authors.initials: JB
authors.lastname: Courcet
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Caroline
authors.initials: C
authors.lastname: Michot
authors.forename: Antoine
authors.initials: A
authors.lastname: Burguet
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Perez-Martin
authors.forename: Eudeline
authors.initials: E
authors.lastname: Alix
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Cordier
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Marie Ange
authors.initials: MA
authors.lastname: Delrue
authors.forename: Brigitte
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.forename: Marie-Line
authors.initials: ML
authors.lastname: Jacquemont
authors.forename: Aurélia
authors.initials: A
authors.lastname: Jaquette
authors.forename: Honorine
authors.initials: H
authors.lastname: Kayirangwa
authors.forename: Didier
authors.initials: D
authors.lastname: Lacombe
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Annick
authors.initials: A
authors.lastname: Toutain
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Anne
authors.initials: A
authors.lastname: Moncla
authors.forename: Anna
authors.initials: A
authors.lastname: Pelet
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
authors.forename: Lucille
authors.initials: L
authors.lastname: Pinson
authors.forename: Sylvain
authors.initials: S
authors.lastname: Poisson
authors.forename: Le Quan Sang
authors.initials: le QS
authors.lastname: Kim-Han
authors.forename: Joelle
authors.initials: J
authors.lastname: Roume
authors.forename: Elodie
authors.initials: E
authors.lastname: Sanchez
authors.forename: Marjolaine
authors.initials: M
authors.lastname: Willems
authors.forename: Marianne
authors.initials: M
authors.lastname: Till
authors.forename: Catherine
authors.initials: C
authors.lastname: Vincent-Delorme
authors.forename: Christiane
authors.initials: C
authors.lastname: Mousson
authors.forename: Sandrine
authors.initials: S
authors.lastname: Vinault
authors.forename: Christine
authors.initials: C
authors.lastname: Binquet
authors.forename: Frédéric
authors.initials: F
authors.lastname: Huet
authors.forename: Pierre
authors.initials: P
authors.lastname: Sarda
authors.forename: Rémi
authors.initials: R
authors.lastname: Salomon
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.forename: David
authors.initials: D
authors.lastname: Geneviève
mesh_terms: D000015:Abnormalities, Multiple / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003404:Creatinine / Q000097:blood; D004268:DNA-Binding Proteins / Q000235:genetics; D005145:Face / Q000002:abnormalities / Q000503:physiopathology; D005260:Female; D005602:France; D056726:Genetic Association Studies; D005819:Genetic Markers; D060005:Genotyping Techniques; D005919:Glomerular Filtration Rate; D006402:Hematologic Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D056466:Histone Demethylases / Q000235:genetics; D006801:Humans; D007223:Infant; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000378:metabolism / Q000503:physiopathology; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D012189:Retrospective Studies; D014463:Ultrasonography; D015837:Vestibular Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D055815:Young Adult
chemical_list: D015415:Biomarkers; D004268:DNA-Binding Proteins; D005819:Genetic Markers; C120898:KMT2D protein, human; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; D003404:Creatinine; D056466:Histone Demethylases; C523998:KDM6A protein, human
keywords: Estimated glomerular filtration rate; KS; Kabuki syndrome; US; Ultrasound; eGFR