A de novo int22h-1/int22h-2-flanked Xq28 deletion-associated preferential X-inactivation in a female with severe hemophilia B.

Autor: Chen WC; School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan., Kao HJ; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Kwok PY; Division of Cardiovascular and Metabolic Diseases, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan.; Department of Dermatology, Cardiovascular Research Institute, and Institute for Human Genetics, University of California, San Francisco, California, USA., Chiou SS; School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.; Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan., Kuo YL; Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.; Genetic Counseling Center, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.; Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan., Hsu WY; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan., Lu PT; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan., Wu CR; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan., Lin PC; Division of Pediatric Hematology and Oncology, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.; School of Post-Baccalaureate Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Jazyk: angličtina
Zdroj: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Dec; Vol. 71 (12), pp. e31332. Date of Electronic Publication: 2024 Sep 17.
DOI: 10.1002/pbc.31332
Abstrakt: A 5-year-old female diagnosed with severe hemophilia B began experiencing frequent muscular and joint bleeds at 19 months old. Molecular studies, including Sanger sequencing, Giemsa banding, human androgen receptor (HUMARA) assay, array-based comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and multiplex ligation-dependent probe amplification (MLPA), revealed a heterozygous factor IX (F9) intron 3 substitution (c.277+1G>T) inherited from her mother and a de novo heterozygous 441 kb deletion in the Xq28 region, which flanked intron 22 homologous regions 1 (int22h1) and 2 (int22h2). This rare genetic profile explains her severe phenotype and guides hereditary consultation for family planning.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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