Wiedemann-Steiner Syndrome with a ۲-Year Follow-Up
- سال انتشار: 1401
- محل انتشار: مجله بین المللی کودکان، دوره: 10، شماره: 10
- کد COI اختصاصی: JR_INJPM-10-10_016
- زبان مقاله: انگلیسی
- تعداد مشاهده: 134
نویسندگان
Student Research Committee, Sabzevar University of Medical Sciences, Sabzevar, Iran
General Paediatrics, Evelina London Children’s Hospital, Guy’s and St. Thomas’ National Health Service Foundation Trust, London, United Kingdom
General Paediatrics, Evelina London Children’s Hospital, Guy’s and St. Thomas’ National Health Service Foundation Trust, London, United Kingdom
Department of Pediatric Endocrinology and Metabolism, Faculty of Medicine, Imam Reza Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
چکیده
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 WDSTSکلیدواژه ها
KMT۲A, Whole exome sequencing, WDSTSاطلاعات بیشتر در مورد COI
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