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GENATLAS PHENOTYPE
last update : 14/09/2007
Symbol ICS2
Location 9p13.3
Name immotile cilia syndrome 2
Other name(s)
  • ciliary dyskinesia 1
  • primary ciliary dyskinesia, 2
    • Corresponding gene DNAI1
    Other symbol(s) CILD1, PCD2, PCD
    Main clinical features chronic respiratory symptoms, with retinitis pigmentosa associated to recurrent respiratory infections
    Genetic determination autosomal recessive
    Related entries . including sinusitis, otitis and recurrent episodes of bronchitis with (Kartagener syndrome, OMIM 244400) or without situs inversus . associated with absence of outer dynein arms and usually with male infertility
    Function/system disorder respiratory
    Type disease
    Gene product
    Name dynein, axonemal, intermediate polypeptide 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function most occur as a common founder IVS1+2_3insT or in exons 13, 16, and 17
    nonsense   truncated protein W568X
    Remark(s) mutations mainly disrupt assembly of proximal outer dynein arm complexes