Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly,Molecular Genetics & Genomic Medicine

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Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-07-16 , DOI: 10.1002/mgg3.1739
Hande Kaymakcalan ₁ , İlyas Kaya ₂ , Nagihan Cevher Binici ₃ , Emrah Nikerel ₄ , Burcu Özbaran ₅ , Mehmet Görkem Aksoy ₅ , Seda Erbilgin ₆ , Gonca Özyurt ₇ , Noor Jahan ₅ , Didem Çelik ₅ , Kanay Yararbaş ₈ , Leyla Yalçınkaya ₉ , Sezen Köse ₅ , Sibel Durak ₃ , Adife Gulhan Ercan-Sencicek _{10,

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Affiliation

Pediatric Genetics Unit, Department of Pediatrics, Demiroglu Bilim University, Istanbul, Turkey.
Department of Child and Adolescent Psychiatry, Istanbul University Istanbul Faculty of Medicine, Istanbul, Turkey.
Department of Child and Adolescent Psychiatry, Dr Behcet Uz Child Disease and Surgery Training and Research Hospital, Istanbul, Turkey.
Department of Bioinformatics, Yeditepe University, Istanbul, Turkey.
Department of Child and Adolescent Psychiatry, Ege University Faculty of Medicine, Izmir, Turkey.
Department of Child and Adolescent Psychiatry, Prof. Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey.
Department of Child and Adolescent Psychiatry, Izmir Katip Celebi University Faculty of Medicine, Izmir, Turkey.
Department of Medical Genetics, Demiroglu Bilim University, Istanbul, Turkey.
Department of Molecular Biology and Genetics, Bilkent University Faculty of Science, Ankara, Turkey.
Masonic Medical Research Institute, Utica, New York, USA.
Yale University School of Medicine, New Haven, Connecticut, USA.
Department of Neurosurgery, Program on Neurogenetics, New Haven, Connecticut, USA.

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.

中文翻译：

土耳其自闭症谱系障碍和大头畸形儿童 PTEN 突变的患病率和临床/分子特征

磷酸酶和张力蛋白同源物 ( PTEN ) 种系突变与癌症综合征 ( PTEN错构瘤肿瘤综合征; PHTS) 以及患有自闭症谱系障碍 (ASD) 和大头畸形的儿科患者有关。PTEN突变在 ASD 和大头畸形患者中的确切患病率尚不确定；患病率从 1% 到 17% 不等。大多数研究是回顾性的，成人患者多于儿科患者，因此需要更多前瞻性儿科研究。

更新日期：2021-08-30

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