BMPR1B mutation causes Pierre Robin sequence
نویسندگان
چکیده
BACKGROUND We investigated a large family with Pierre Robin sequence (PRS). AIM OF THE STUDY This study aims to determine the genetic cause of PRS. RESULTS The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized that PRS in this family was caused by (i) haploinsufficiency for BMPR1B or (ii) a gain of function mechanism mediated by the BMPR1B-GRM4 fusion gene. In an unrelated family, we identified another BMPR1B-splicing mutation that co-segregated with PRS. CONCLUSION We detected two BMPR1B mutations in two unrelated PRS families, suggesting that BMPR1B disruption is probably a cause of human PRS. METHODS GTG banding, comparative genomic hybridization, whole-genome sequencing, and Sanger sequencing were performed to identify the gene causing PRS.
منابع مشابه
Role of SOX9 in the Etiology of Pierre-Robin Syndrome
Objective(s:Cleft lip/palate are common congenital anomalies, affecting approximately 2/1000 live births. Pierre Robin Sequence is a subgroup of the cleft palate population. Chromosomal abnormalities near the SOX9 gene disrupt the regulation of this gene and prevent the SOX9 protein from properly controlling the development of facial structures, which leads to isolated PRS. The present study wa...
متن کاملاانجام بیهوشی عمومی برای خدمات دندانپزشکی یک بیمار مبتلا به Pierre Robin Sequence: گزارش مورد
مقدمه:Pierre Robin Sequence که قبلاً به عنوان سندروم پیر روبین نامیده میشد، شامل سه ناهنجاری مادرزادی ماندیبول کوچک، عقب افتادگی زبان و شکاف کام میباشد. به طوری که نقص اولیه عامل ایجاد نقص بعدی است. نوزادان مبتلا به این بیماری با مشکلات انسداد راه هوایی، بازگشت محتویات معده به مری وتغذیه همراهند. مداخلات صورت گرفته اغلب جهت حفظ یک راه هوایی باز است. شرح مورد: یکی از مشکلات اصلی با توجه به کو...
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