Article
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
American journal of medical genetics. Part A - 1 Oct 2017
Carlston Colleen M, Afify Zeinab A, Palumbos Janice C, Bagley Heidi, Barbagelata Carlos, Wooderchak-Donahue Whitney L, Mao Rong, Carey John C
Abstract excerpt
Diamond-Blackfan anemia (DBA) is a group of clinically and genetically heterogeneous bone marrow failure disorders with or without congenital anomalies. Variable expressivity and incomplete penetrance have been observed within affected families. Diamond-Blackfan anemia-7 (DBA7), caused by heterozygous mutations in ribosomal protein L11 (RPL11), accounts for approximately 5% of DBA. DBA7 is usually characterized...
Topics
- Adult
- Anemia, Diamond-Blackfan
- Child, Preschool
- Female
- Humans
- Male
- Mutation
- Pedigree
- Penetrance
- Phenotype
- RNA Splicing