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GENATLAS PHENOTYPE
last update : 29/10/2008
Symbol ATR16
Location 16p13.3
Name alpha thalassemia/ mental retardation syndrome
Other name(s) hemoglobin H-related mental retardation, ATR-16 syndrome, ATR, deletion-type
Corresponding gene HB-A@ , SOX8
Other symbol(s) HMRD, HMRDA, HBHR
Main clinical features
  • association of alpha-thalassemia and mental retardation
  • mild to moderate mental retardation, no characteristic spectrum of phenotypic abnormality apart from the hematologic manifestations, multiple congenital anomalies
    • Genetic determination chromosomal
    Related entries ATHAL, thalassemia, alpha
    Function/system disorder metabolism/porphyrin and heme
    Type disease
    Gene product
    Name hemoglobin alpha cluster (HB-A@), SOX8, contiguous gene deletion
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion haploinsufficiency microdeletion in the terminal band 16p13.3
      translocation haploinsufficiency unbalanced translocations with monosomy 16p13.3 and associated variable trisomy, familial or de novo
      translocation haploinsufficiency unbalanced form of an inherited cryptic subtelomeric translocation with 10 cases in one family
    Remark(s) contiguous gene deletion involving the distal short arm of chromosome 16 deleting the two genes in cis configuration at 16p13 that encode alpha globin chains. SOX8 found deleted in 1 patient is a candidate gene for mental retardation.