title: Kabuki syndrome and Crohn disease in a child with familial hypocalciuric hypercalcemia.
abstract: BACKGROUND
  Familial hypocalciuric hypercalcemia (FHH) results from a mutation of the calcium sensing receptor (CASR) gene and typically presents as asymptomatic hypercalcemia with inappropriately low urinary calcium excretion and normal or mildly elevated levels of parathyroid hormone.
  
  
  OBJECTIVE
  To describe a case of FHH associated with Kabuki syndrome and Crohn disease.
  
  
  METHODS
  Genomic DNA was screened for CASR mutations and a retrospective chart review was performed.
  
  
  RESULTS
  Heterozygosity was observed in exon 3, which encodes a portion of the extra-cellular domain. Sequencing revealed a n.476T>G nucleotide transversion, predicting a non-conservative substitution of arginine for leucine at codon 159 (p.L159R).
  
  
  CONCLUSIONS
  An association between Kabuki syndrome and autoimmune disease has been described in the literature, which may explain the connection between Kabuki syndrome and Crohn disease. However, it remains unclear if there is a link between FHH, Kabuki syndrome and Crohn disease in this case.
authors.affiliation: Department of Paediatrics, University of Calgary, Alberta, Canada. josephine.ho@albertahealthservices.ca
authors.forename: Josephine
authors.initials: J
authors.lastname: Ho
authors.forename: Danya
authors.initials: D
authors.lastname: Fox
authors.forename: A Micheil
authors.initials: AM
authors.lastname: Innes
authors.forename: Ross
authors.initials: R
authors.lastname: McLeod
authors.forename: Decker
authors.initials: D
authors.lastname: Butzner
authors.forename: Nicole
authors.initials: N
authors.lastname: Johnson
authors.forename: Cynthia
authors.initials: C
authors.lastname: Trevenen
authors.forename: Victoria
authors.initials: V
authors.lastname: Kendrick
authors.forename: David E C
authors.initials: DE
authors.lastname: Cole
mesh_terms: D000015:Abnormalities, Multiple / Q000209:etiology; D003424:Crohn Disease / Q000209:etiology*; D005145:Face / Q000002:abnormalities; D006402:Hematologic Diseases / Q000209:etiology; D006801:Humans; D006934:Hypercalcemia / Q000150:complications / Q000151:congenital; D008297:Male; D044169:Receptors, Calcium-Sensing / Q000235:genetics; D015837:Vestibular Diseases / Q000209:etiology
chemical_list: C095550:CASR protein, human; D044169:Receptors, Calcium-Sensing