期刊
AMERICAN JOURNAL OF MEDICAL GENETICS
卷 101, 期 3, 页码 268-274出版社
WILEY-LISS
DOI: 10.1002/ajmg.1329
关键词
cleft palate; Diamond-Blackfan anemia; microtia; RPS19; Treacher Collins syndrome
资金
- NCRR NIH HHS [01-RR00240] Funding Source: Medline
We report on maternal first cousins with bilateral microtia, micrognathia, cleft palate and hematologic findings of Diamond-Blackfan anemia (DBA). The similarity of findings shared between our cases and a female reported by Hasan and Inoue [1993] suggests that this is a distinctive syndrome, rather than a chance association. DBA is a heterogeneous disorder, caused in about 25% of cases by heterozygous mutations in the RPS19 gene (DBA1). Mutation analysis in our cases did not show an RPS19 mutation, and 2 alleles were present in each, Segregation analysis for DBA1 on chromosome 19 and DBA2 on 8p23 was not consistent with linkage. We conclude that this syndrome of microtia, cleft palate and DBA is not allelic to known DBA loci. (C) 2001 Wiley-Liss, Inc.
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