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GENATLAS PHENOTYPE
last update : 09-01-2024
Symbol HCYS
Location 2p21
Name hypotonia-cystinuria syndrome
Other name(s)
  • homozygous 2p21 deletion syndrome
  • cystinuria with mitochondrial disease
    • Corresponding gene PREPL , SLC3A1
    Other symbol(s) HCS, CSNMD, DEL2P21
    Main clinical features
  • hypotonia, cystinuria, nephrolithiasis, growth hormone deficiency, minor facial dysmorphism
  • characterized mainly by dolichocephaly and ptosis of the eyelids, motor development mildly to moderately retarded, speech normal or mildly retarded, but nasal speech, hyperphagia and rapid weight gain in late childhood, brain scan or magnetic resonance imaging normal
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    metabolism/aminoacids
    Type disease
    Gene product
    Name contiguous gene syndrome caused by deletions disrupting the coding sequences of the SLC3A1 and PREPL genes in homozygous or compound heterozygous patients
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   microdeletions disrupting the coding sequences of the SLC3A1 and PREPL genes in homozygous or compound heterozygous patients
    Remark(s) four different deletion alleles are found in different populations due tofounder effects
    Genotype/Phenotype correlations homozygous deletion of SLC3A1, PREPL and C2orf34 causes mild to moderate mental retardation, which could be explained if C2orf34 encodes a genuine methyltransferase