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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.
Front Genet
January 2025
Department of Hematology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing, China.
Objectives: Hemophilia A (HA) is an X-linked recessive inherited bleeding disorder that typically affects men. Women are usually asymptomatic carriers, and rarely presenting with severe or moderately severe phenotype. This study aims to describe a case of a 17-year-old girl with moderate HA, investigating the mechanisms of her condition and the genetic basis within her family.
View Article and Find Full Text PDFLong read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.
BMC Pediatr
January 2025
Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, 123 Tianfei Alley, Nanjing, 210004, People's Republic of China.
Background: Chromosomal inversions are underappreciated causes of rare diseases given their detection, resolution, and clinical interpretation remain challenging. Heterozygous mutations in the MEIS2 gene cause an autosomal dominant syndrome characterized by intellectual disability, cleft palate, congenital heart defect, and facial dysmorphism at variable severity and penetrance.
Case Presentation: Herein, we report a Chinese girl with intellectual disability, developmental delay, and congenital heart defect, in whom G-banded karyotype analysis identified a de novo paracentric inversion 46,XX, inv(15)(q15q26.
Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients.
Ann Hematol
December 2024
Shandong Blood Center, Shandong Hemophilia Treatment Center, Jinan, China.
Hemophilia A (HA) is an X-chromosome-linked recessive genetic disorder. Female carriers may have bleeding symptoms, but rarely have moderate or severe disease. We identified a female patient with moderate HA by pedigree tracking and genetic testing in a HA family involving consanguineous marriage.
View Article and Find Full Text PDFGenetic Diagnosis and Prenatal Diagnosis of a Rare FVIII Family With Haemophilia A.
J Cell Mol Med
December 2024
Reproductive Genetics Department, Hebei General Hospital, Shijiazhuang, Hebei, China.
Article Synopsis
- - The study focused on identifying genetic variations causing haemophilia A within a unique family, using advanced techniques like DHPLC and PCR for diagnosis.
- - Comprehensive clinical data and laboratory tests revealed the proband's significantly prolonged activated partial prothrombin time (APTT) and low clotting factor VIII activity, suggesting serious coagulation issues.
- - A rare pathogenic mutation involving a 226 bp insertion in the F8 gene was discovered, highlighting the importance of using multiple experimental approaches for effective genetic diagnosis of haemophilia A.
Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A.
Haemophilia
December 2024
Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, Hunan, China.
Article Synopsis
- Haemophilia A (HA) is a rare bleeding disorder linked to mutations in the F8 gene, with unclear causes in some patients, particularly among females with severe forms.
- The study aimed to explore the genetic defects causing severe HA in two specific patients and offer personalized reproductive options for their families.
- Advanced sequencing techniques unveiled unique mutations in both patients, leading to successful reproductive interventions, including preimplantation genetic testing and prenatal diagnosis to prevent passing on the disorder.
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