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

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 seq...

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Bibliographic Details
Published in:Pediatric blood & cancer 2024-12, Vol.71 (12), p.e31332-n/a
Main Authors: Chen, Wan‐Chun, Kao, Hsiao‐Jung, Kwok, Pui‐Yan, Chiou, Shyh‐Shin, Kuo, Yu‐Ling, Hsu, Wan‐Yi, Lu, Ping‐Tao, Wu, Cian‐Rong, Lin, Pei‐Chin
Format: Article
Language:English
Subjects:
Androgen receptors
Chromosome banding
Coagulation factors
Factor IX deficiency
factor IX gene variant
female hemophilia
Hemophilia
Hybridization
int22h‐1/int22h‐2‐flanked Xq28 deletion
Phenotypes
preferential X chromosome inactivation
Whole genome sequencing
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Summary: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.
ISSN:1545-5009
1545-5017
1545-5017
DOI:10.1002/pbc.31332