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

Kaymakcalan, Hande; Kaya, İLYAS; Binici, Nagihan; Nikerel, Emrah; Ozbaran, Burcu; Aksoy, Mehmet; Erbilgin, Seda; ÖZYURT, GONCA; Jahan, Noor; ÇELİK, DİDEM; Yararbas, Kanay; Yalcinkaya, Leyla; KÖSE, SEZEN; Durak, Sibel; Ercan-Sencicek, Adife

doi:10.1002/mgg3.1739

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

Kaymakcalan H., Kaya I., Binici N. C., Nikerel E., Ozbaran B., Aksoy M. G., ...Daha Fazla

MOLECULAR GENETICS & GENOMIC MEDICINE, cilt.9, 2021 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 9
Basım Tarihi: 2021
Doi Numarası: 10.1002/mgg3.1739
Dergi Adı: MOLECULAR GENETICS & GENOMIC MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, EMBASE, MEDLINE, Directory of Open Access Journals
Anahtar Kelimeler: autism spectrum disorder, macrocephaly, mutation, prevalence, PTEN, TUMOR-SUPPRESSOR, GERMLINE MUTATIONS, COWDEN SYNDROME, GENE, INDIVIDUALS, PHOSPHATASE, PROTEIN, DOMAIN
İstanbul Üniversitesi Adresli: Evet

Özet

Background: Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult than pediatric patients, there is a need for more prospective pediatric studies.