Background: Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype of brachydactyly A2 [MIM 112600] or brachydactyly C with symphalangism [MIM 113100].
Methods: In this article we report a family of Polish extraction with a novel mutation: c.1457G>T (R486L) which segregated with a complex brachydactyly. Clinical and radiological data are presented and details of previously reported patients with a pathogenic change of an amino acid at position 486 of the BMPR1B gene are summarized.
Conclusion: Our data extends the previously known mutational and radiological spectrum associated with mutations in the BMPR1B gene and confirms the existence of a universal hotspot in the BMPR1B gene in this distinctive autosomal dominant brachydactyly disorder. It is of interest that an affected female in the Polish family had a severe congenital malformation of the venous system in addition to her digital anomalies. This observation raises the possibility of disturbance of embryonic angiogenesis by specific mutations in BMPR1B.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/bdra.23354 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Transcriptomic insight into the underlying mechanism of induced molting on reproductive remodeling, performance and egg quality in laying hen.
Poult Sci
December 2024
State Key Laboratory of Animal Biotech Breeding, Institute of Animal Science, Chinese Academy of Agricultural Sciences, Beijing 100193, China. Electronic address:
Article Synopsis
- The study examined how fasting during molting affects the reproductive system and egg quality in laying hens, particularly focusing on reproductive remodeling mechanisms.
- Two hundred and forty 380-day-old Jingfen No. 6 hens were divided into four experimental groups to analyze changes across different molting stages: pre-molt, molt, recovery, and peak-laying.
- Key findings showed that fasting led to oviduct atrophy, loss of large follicles in ovaries, and hormonal changes, while transcriptomic analysis identified important genes influencing reproductive function and egg quality improvements post-molt.
Functional effects of BMPR1B in porcine endometrium provides novel insights into the high fecundity of Taihu pigs.
Int J Biol Macromol
December 2024
Department of Animal Genetics and Breeding, National Engineering Laboratory for Animal Breeding, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China; Key Laboratory of Animal Genetics, Breeding and Reproduction of the Ministry of Agriculture and Rural Affairs, College of Animal Science and Technology, China Agricultural University, Beijing 100193, China; CAU-SC Advanced Agricultural & Industrial institute, CAU-SCCD Advanced Agricultural & Industrial institute, China Agricultural University, Chengdu 611430, China. Electronic address:
Litter size in pigs is affected by factors such as ovulation number, embryonic survival, and uterine environment conditions. Endometrial epithelial and stromal cells represent the first site of contact between the embryo and sows; therefore, dynamic changes in the growth and development of these cells are among the major factors affecting the intrauterine environment and implantation. Bone morphogenetic protein receptor type-1B (BMPR1B) is a receptor of the bone morphogenetic protein (BMP) family that has been identified as a candidate gene for reproductive traits in pigs.
View Article and Find Full Text PDFGenomic insights into demographic history, structural variation landscape, and complex traits from 514 Hu sheep genomes.
J Genet Genomics
December 2024
College of Animal Sciences, Zhejiang University, Hangzhou, Zhejiang 310058, China; Hainan Institute, Zhejiang University, Sanya, Hainan 572000, China. Electronic address:
Hu sheep is an indigenous breed from the Taihu Lake Plain in China, known for its high fertility. Although Hu sheep belong to the Mongolian group, their demographic history and genetic architecture remain inconclusive. Here, we analyze 697 sheep genomes from representatives of Mongolian sheep breeds.
View Article and Find Full Text PDFGenetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Int J Mol Sci
November 2024
Unité de Génétique Moléculaire des Maladies Métaboliques et de la Reproduction, Hôpital Bicêtre, Faculté de Médecine Paris Saclay, INSERM U1193, 94275 Le Kremlin-Bicêtre, France.
Article Synopsis
- Diminished ovarian reserve (DOR) and primary ovarian insufficiency (POI) significantly contribute to female infertility, with a recent study finding a genetic cause in 29.3% of POI cases.
- A prospective study of 120 patients with unexplained DOR revealed a 24.2% diagnostic yield using advanced sequencing technology to identify genes related to various biological pathways.
- Findings indicated that impaired oocyte quality is linked to meiosis/DNA repair genes, and the study supports the need for genetic testing as a routine part of infertility diagnosis and a potential predictor for progression to POI.
Identification and validation of a prognostic model based on immune-related genes in ovarian carcinoma.
PeerJ
November 2024
Department of Gynecologic Oncology, Tianjin Medical University Cancer Institute and Hospital, Tianjin, China.
Background: A novel valuable prognostic model has been developed on the basis of immune-related genes (IRGs), which could be used to estimate overall survival (OS) in ovarian cancer (OC) patients in The Cancer Genome Atlas (TCGA) dataset and the International Cancer Genome Consortium (ICGC) dataset.
Methods: This prognostic model was engineered by employing LASSO regression in training cohort (TCGA dataset). The corresponding growth predictive values of this model for individualized survival was evaluated using survival analysis, receiver operating characteristic curve (ROC curve), and risk curve analysis.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!