title: Heterogeneity in phenotype of usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes.
abstract: OBJECTIVE
  To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous 11p15-p14 Deletion syndrome (MIM #606528).
  
  
  METHODS
  Prospective clinical follow-up and genetic analysis by direct sequencing, multiplex ligation-dependent probe amplification, and microsatellite markers.
  
  
  RESULTS
  Genetic testing identified the previous described homozygous deletion in 11p15, USH1C:c.(90+592)_ABCC8:c.(2694-528)del. Fourteen patients had severe CHI demanding near-total pancreatectomy. In one patient with mild, transient neonatal hypoglycemia and nonautoimmune diabetes at age 11 years, no additional mutations were found in HNF1A, HNF4A, GCK, INS, and INSR. Retinitis pigmentosa was found in two patients aged 9 and 13 years. No patients had enteropathy or renal tubular defects. Neuromotor development ranged from normal to severe delay with epilepsy.
  
  
  CONCLUSIONS
  The phenotype of Homozygous 11p15-p14 Deletion syndrome, or Usher-CHI syndrome, includes any severity of neonatal-onset CHI and severe, sensorineural hearing loss. Retinitis pigmentosa and nonautoimmune diabetes may occur in adolescence.
authors.affiliation: Department of Pediatrics, Endocrinology Division, King Abdulaziz Medical City-Riyadh, Riyadh, Saudi Arabia.
authors.forename: Angham N
authors.initials: AN
authors.lastname: Al Mutair
authors.forename: Klaus
authors.initials: K
authors.lastname: Brusgaard
authors.forename: Bassam
authors.initials: B
authors.lastname: Bin-Abbas
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
authors.forename: Naila
authors.initials: N
authors.lastname: Felimban
authors.forename: Adnan
authors.initials: A
authors.lastname: Al Shaikh
authors.forename: Henrik T
authors.initials: HT
authors.lastname: Christesen
mesh_terms: D000293:Adolescent; D015703:Antigens, CD / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D044903:Congenital Hyperinsulinism / Q000503:physiopathology*; D003920:Diabetes Mellitus / Q000503:physiopathology; D005260:Female; D000081410:Germinal Center Kinases; D034381:Hearing Loss / Q000503:physiopathology*; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics; D051557:Hepatocyte Nuclear Factor 4 / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010641:Phenotype; D011446:Prospective Studies; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011972:Receptor, Insulin / Q000235:genetics; D012174:Retinitis Pigmentosa / Q000503:physiopathology*
chemical_list: D015703:Antigens, CD; D000081410:Germinal Center Kinases; C496487:HNF1A protein, human; C496592:HNF4A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D051557:Hepatocyte Nuclear Factor 4; C435941:INSR protein, human; D011972:Receptor, Insulin; D017346:Protein Serine-Threonine Kinases