Wiedemann-Steiner Syndrome with a ۲-Year Follow-Up
Publish place: International Journal of Pediatrics، Vol: 10، Issue: 10
Publish Year: 1401
نوع سند: مقاله ژورنالی
زبان: English
View: 186
This Paper With 6 Page And PDF Format Ready To Download
- Certificate
- من نویسنده این مقاله هستم
استخراج به نرم افزارهای پژوهشی:
شناسه ملی سند علمی:
JR_INJPM-10-10_016
تاریخ نمایه سازی: 30 مهر 1401
Abstract:
Wiedemann-Steiner syndrome (WDSTS) is an exceptionally rare genetic syndrome characterized by postnatal growth retardation, facial dysmorphism, hairy elbow, and short stature. It is known that the occurrence of WDSTS is due to mutations in KMT۲A gene. It is noteworthy that not a great number of WDSTS have been identified yet; thereby, new phenotypes and features continue to be added. In this report, we describe a ۵-year-old male patient presented with developmental delay, hypothyroidism, facial dysmorphism, and behavioral signs such as autistic spectrum features. By Whole Exome Sequencing (WES), a new mutation in KMT۲A was found and WDSTS was diagnosed genetically. According to a genetic test, a variant in exon ۲۷ of the KMT۲A gene c.۶۶۴۷delT (p.Pro۲۲۱۵fs) was found. This mutation was not reported previously, also this case was the first WDSTS diagnosed in Iran. This syndrome is a rare genetic disorder representing a broad range of phenotypes. The mentioned low frequency emphasizes the importance of a phenotype-genotype correlation to be established. The phenotype comparison between our case and previously reported patient did not reveal any difference related to age or sex in patients with WDSTS
Keywords:
Authors
Mohamad Hosein Mohamadi
Student Research Committee, Sabzevar University of Medical Sciences, Sabzevar, Iran
Moein Mobini
General Paediatrics, Evelina London Children’s Hospital, Guy’s and St. Thomas’ National Health Service Foundation Trust, London, United Kingdom
Saba Vakili
General Paediatrics, Evelina London Children’s Hospital, Guy’s and St. Thomas’ National Health Service Foundation Trust, London, United Kingdom
Rahim Vakili
Department of Pediatric Endocrinology and Metabolism, Faculty of Medicine, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
مراجع و منابع این Paper:
لیست زیر مراجع و منابع استفاده شده در این Paper را نمایش می دهد. این مراجع به صورت کاملا ماشینی و بر اساس هوش مصنوعی استخراج شده اند و لذا ممکن است دارای اشکالاتی باشند که به مرور زمان دقت استخراج این محتوا افزایش می یابد. مراجعی که مقالات مربوط به آنها در سیویلیکا نمایه شده و پیدا شده اند، به خود Paper لینک شده اند :