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GENATLAS PHENOTYPE
last update : 26-04-2012
Symbol DEL17Q12
Location 17q12
Name chromosome 17q12 microdeletion
Corresponding gene HNF1B , LHX1
Other symbol(s) RCAD, DUP17Q12
Main clinical features
  • MODY5 (maturity-onset of diabetes of the young type 5), cystic renal disease, pancreatic atrophy, liver abnormalities, cognitive impairment and structural brain abnormalities
  • high risk for ASD, schizophrenia, or neurodevelopmental disorders, neurocognitive impairment, (Moreno-De-Luca, 2010 PMID: 21055719))
  • two case reports with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome PMID: 19889212
  • congenital diaphragmatic hernia may be part of the clinical spectrum PMID: 22178801
  • nonpenetrance and variable expressivity of multiple features of this condition.
    • Genetic determination chromosomal
    genomic disorder
    Prevalence 1 in 875 in patients with neurodevelopmental disorders and 1 in 1254 in a follow-up sample
    Related entries RCAD
    Function/system disorder psychiatry disorder
    endocrinology
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome with 14 genes implicated
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   1.4 Mb recurring deletion flanked by segmental duplications at chr17:31,893,783-33,277,865
    Remark(s) LHX1 is an interesting candidate to explain the neurocognitive phenotype
    Genotype/Phenotype correlations not all the patients ascertained with this CNV from developmental delay or ASD had a diagnosis of RCAD. However, it is important to refer these patients for evaluation of renal and endocrine function; complex autism spectrum disorder in a patient with a 17q12 microduplication PMID: 22488896;;