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GENATLAS PHENOTYPE
last update : 19/07/2006
Symbol MCAUTS
Location 10q23.31
Name macrocephaly extreme (>4DS) / autism
Corresponding gene PTEN
Main clinical features macrocephaly at birth (>98p100), broad forehead, with obvious macrocephaly, , mild joint hyperextensibility, deficient eye contact, mild cognitive impairment, autism spectrum disorder, with normal MRI
Genetic determination autosomal dominant
Function/system disorder
Type MCA/MR
Gene product
Name phosphatase and tensin homolog
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   unknown  
Remark(s)
Genotype/Phenotype correlations R130X nonsense mutation within rexon 5, in the core phosphatase domain, has been found in Cowden syndrome (CS), Bannayan-Ruvalcaba syndrome (BRRS), and CS-BRRS overlap families