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  • Title: Segmental uniparental disomy as a rare cause of congenital severe factor XIII deficiency in a girl with only one heterozygous carrier parent.
    Author: Shen MC, Chen M, Chang SP, Lin PT, Hsieh HN, Lin KH.
    Journal: Pediatr Hematol Oncol; 2018; 35(7-8):442-446. PubMed ID: 30702381.
    Abstract:
    Uniparental disomy (UPD) refers to a situation when a person inherits both homologs of a region or complete part of a chromosome from only one parent. Here, we present an unusual case of UPD in congenital severe factor (F) XIII deficiency. A 6-year-old girl experienced cephalhematoma and umbilical bleeding after birth and easy bruising, and postextraction bleeding since early infancy. FXIII activity was 0% [mother 53.7% and father 132.5% (normal 70-140%)] and the FXIII antigen level was 2.5% [mother 38.9% and father 151% (normal 75-155%)]. The washed platelet FXIII activity was 0.1% in the patient (normal 64-144%), suggesting a deficiency of FXIII-A subunit. The FXIII-A subunit genetic analysis detected a homozygous p.Arg382Ser mutation. A similar heterozygous mutation was detected in the mother but surprisingly, not in the father. Kinship was confirmed by a paternity test. To confirm the possibility of UPD, a test using four markers in the vicinity of the F13A1 gene revealed that she inherited duplicate mutations from a heterozygous mutation in her mother, presenting a unique case of unusual maternal segmental UPD in otherwise unexplained congenital (homozygous) severe FXIII deficiency. UPD as a rare cause of autosomal recessive bleeding disorder when only one parent is affected is critical for genetic counseling.
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