Article
A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome.
European journal of human genetics : EJHG - 1 Jun 2016
Schwerd Tobias, Khaled Andrea V, Schürmann Manfred, Chen Hannah, Händel Norman, Reis André, Gillessen-Kaesbach Gabriele, Uhlig Holm H, Abou Jamra Rami
Abstract excerpt
PTEN hamartoma tumour syndrome (PHTS) is caused by heterozygous variants in PTEN and is characterised by tumour predisposition, macrocephaly, and cognition impairment. Bi-allelic loss of PTEN activity has not been reported so far and animal models suggest that bi-allelic loss of PTEN activity is embryonically lethal. Here, we report the identification of a novel homozygous variant in PTEN, NM_000314.4; c.545T>C;...
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