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Mutational screening of BASP1 and transcribed processed pseudogene TPΨg-BASP1 in patients with Mbius syndrome

Journal of Genetics and Genomics 2009年第4期36卷 251-256页

作者： Abdullah Uzumcu Sukru Candan Guven Toksoy Z.Oya Uyguner Birsen Karaman Hacer Eris Burak Tatli hulya kayserili Adnan Yuksel Bilge Geckinli Memnune Yuksel-Apak Seher Basaran Department of Medical Genetics Istanbul Medical Faculty Istanbul UniversityIstanbul 34390 Turkey Department of Genetics Zeynep Kamil Gynecologic and Pediatric Training and Research HospitalIstanbul 34668 Turkey Division of Neurology Department of Pediatrics Istanbul Medical Faculty Istanbul UniversityIstanbul 34390 Turkey Department of Medical Genetics Cerrahpasa Medical Faculty Istanbul UniversityIstanbul 34098 Turkey

Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves Ⅴ through Ⅻ underlines the disease pathogenesis. Although a genetic etiology for Moebius syndrome was proposed, molecular genetic studies to identify the causative gene（s） are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPψg-BASP1, which is located on chromosome 13q flanking the putative locus for Moebius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Moebius syndrome.

关键词： MObius syndrome Iacial palsy candidate gene BASP1 transcribed processed pseudogene non-coding RNA mutation screening

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Imatinib response of gastrointestinal stromal tumor patients with germline mutation on KIT exon 13:A family report

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World Journal of Radiology 2017年第9期9卷 365-370页

作者： Gulgun Engin Serpil Eraslan Hülya kayserili Yersu Kapran Haluk Akman Ali Akyuz Nuri Faruk Aykan Oncology Institute Istanbul University Medical Genetics Department Koc UniversitySchool of Medicine(KUSoM) Pathology Department Koc UniversitySchool of Medicine(KUSoM) International Hospital Acibadem University Acibadem International Hospital Istinye University Liv Hospital

Familial gastrointestinal stromal tumor(GIST) is a rare autosomal dominant disorder associated with mutations in the KIT gene in the majority of cases. Although, exon 11 appears to be the hot spot region for approximately 95% of germline mutations, pathogenic variations have also been identified in exon 8, 13 and 17. Exon 13 germline mutations are extremely rare amongst familial GISTs and seven families with a germline mutation have been reported to date. Moreover, the role of imatinib mesylate in this rare familiar settings is not completely known so far. We describe here clinical, imaging, pathological and genetic findings of a family with four affected members; grandmother, his son and two grand-sons having a germline gain-of-function mutation of KIT in exon 13 and discuss the imatinib mesylate treatment surveillance outcomes towards disease management.

关键词： Gastrointestinal stromal tumor Familial Germline mutation Imatinib Response

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