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DIAMOND-BLACKFAN ANEMIA 13; DBA13

DIAMOND-BLACKFAN ANEMIA 13; DBA13

Mirabello et al. (2014) reported a 2-generation family in which 5 individuals developed Diamond-Blackfan anemia between 3 months and 9 years of age. The severity...

Mirabello et al. (2014) reported a 2-generation family in which 5 individuals developed Diamond-Blackfan anemia between 3 months and 9 years of age. The severity was variable: 4 patients responded to steroids and were in remission as adults, whereas the disorder was refractory to steroids in 1 patient, who underwent bone marrow transplant. None of the patients had dysmorphic features, and 1 patient who was a smoker developed lung cancer at age 56. Laboratory studies showed increased erythrocyte adenosine deaminase in most patients and in 1 asymptomatic carrier. A 25-year-old man in an unrelated family presented with DBA at age 2 years. The disorder was responsive to steroid treatment, and he was in remission from age 4 years. He did not have dysmorphic features. An asymptomatic half-sib had increased erythrocyte adenosine deaminase. Both families had several members with cancer.

▼ Inheritance
The transmission pattern of DBA13 in the families reported by Mirabello et al. (2014) was consistent with autosomal dominant inheritance and incomplete penetrance.

▼ Molecular Genetics
In affected members of 2 unrelated families with Diamond-Blackfan anemia, Mirabello et al. (2014) identified heterozygous missense mutations in the RPS29 gene (603633.0001 and 603633.0002). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families; however, both families showed evidence of incomplete penetrance. Functional studies showed that the mutations caused haploinsufficiency of RPS29.

Tags: 14q21.3