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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.

Hande Kaymakcalanİlyas KayaNagihan Cevher BiniciEmrah NikerelBurcu ÖzbaranMehmet Görkem AksoySeda ErbilginGonca ÖzyurtNoor JahanDidem ÇelikKanay YararbaşLeyla YalçınkayaSezen KöseSibel DurakAdife Gulhan Ercan-Sencicek
Published in: Molecular genetics & genomic medicine (2021)
PTEN gene sequence analyses identified three pathogenic/likely pathogenic mutations [NM_000314.6; p.(Pro204Leu), (p.Arg233*) and novel (p.Tyr176Cys*8)] and two variants of uncertain significance (VUS) [NM_000314.6; p.(Ala79Thr) and c.*10del]. We also report that patient with (p.Tyr176Cys*8) mutation has Grade 1 hepatosteatosis, a phenotype not previously described. This is the first PTEN prevalence study of patients with ASD and macrocephaly in Turkey and South Eastern Europe region with a largest homogenous cohort. The prevalence of PTEN mutations was found 3.8% (VUS included) or 2.29% (VUS omitted). We recommend testing for PTEN mutations in all patients with ASD and macrocephaly.
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