AI Article Synopsis
- - A 5-year-old girl with severe hemophilia B started having frequent muscle and joint bleeds at 19 months old.
- - Genetic testing identified a mutation in the factor IX gene, as well as a large deletion in the Xq28 region, which is crucial for her condition.
- - These findings not only clarify the severity of her hemophilia but also assist in family planning discussions for her family.
Article Abstract
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.
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| http://dx.doi.org/10.1002/pbc.31332 | DOI Listing |
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