Entry - #615909 - DIAMOND-BLACKFAN ANEMIA 13; DBA13 - OMIM - (OMIM.ORG)

 
ICD+
# 615909

DIAMOND-BLACKFAN ANEMIA 13; DBA13 (VSports注册入口)


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
14q21.3 Diamond-Blackfan anemia 13 615909 AD 3 RPS29 603633
Clinical Synopsis
 
Phenotypic Series
 

INHERITANCE - Autosomal dominant [SNOMEDCT: 263681008, 771269000] [UMLS: C1867440, C0443147 HPO: HP:0000006] [HPO: HP:0000006] HEMATOLOGY - Normocytic anemia [SNOMEDCT: 300980002] [UMLS: C0085577 HPO: HP:0001897] [HPO: HP:0001897] NEOPLASIA - Possibly increased risk of cancer [UMLS: C4014642] LABORATORY ABNORMALITIES - Elevated erythrocyte adenosine deaminase [UMLS: C4014643] MISCELLANEOUS - One family and an unrelated patient have been reported (last curated July 2014) - Onset in childhood - No dysmorphic features - Most cases are responsive to steroids - Incomplete penetrance [UMLS: C1836598 HPO: HP:0003829] [HPO: HP:0003829] - Variable expressivity [UMLS: C1861403 HPO: HP:0003828] [HPO: HP:0003828] MOLECULAR BASIS - Caused by mutation in the ribosomal protein S29 gene (RPS29, 603633. 0001) ▲ Close Diamond-Blackfan anemia - PS105650 - 22 Entries Location Phenotype Inheritance Phenotypemapping key PhenotypeMIM number Gene/Locus Gene/LocusMIM number 1p36. 11 Diamond-Blackfan anemia 7 AD 3 612562 RPL11 604175 1p22. 1 Diamond-Blackfan anemia 6 AD 3 612561 RPL5 603634 1q21. 3 . Diamond-Blackfan anemia 17 AD 3 617409 RPS27 603702 2p25. 3 Diamond-Blackfan anemia 8 AD 3 612563 RPS7 603658 3p24. 2 Diamond-Blackfan anemia 12 AD 3 615550 RPL15 604174 3q29 Diamond-Blackfan anemia 5 AD 3 612528 RPL35A 180468 6p21. 31 Diamond-Blackfan anemia 9 AD 3 613308 RPS10 603632 8p23. 3-p22 Diamond-Blackfan anemia 2 2 606129 DBA2 606129 9q33. 3 . Diamond-Blackfan anemia 19 AD 3 618312 RPL35 618315 10q22. 3 Diamond-blackfan anemia 3 AD 3 610629 RPS24 602412 12q13. 2 Diamond-Blackfan anemia 10 AD 3 613309 RPS26 603701 14q21. 3 Diamond-Blackfan anemia 13 AD 3 615909 RPS29 603633 15q25. 2 Diamond-Blackfan anemia 4 AD 3 612527 RPS17 180472 16p12. 3 . Diamond-Blackfan anemia 20 AD 3 618313 RPS15A 603674 16q12. 1 Diamond-Blackfan anemia 21 AR 3 620072 HEATR3 614951 17p13. 1 . Diamond-Blackfan anemia 11 AD 3 614900 RPL26 603704 17q21. 31 . Diamond-Blackfan anemia 16 AD 3 617408 RPL27 607526 18q21. 1 Diamond-Blackfan anemia 22 AD 3 621262 RPL17 603661 19p13. 2 Diamond Blackfan anemia 15 with mandibulofacial dysostosis AD 3 606164 RPS28 603685 19q13. 2 Diamond-Blackfan anemia 1 AD 3 105650 RPS19 603474 19q13. 33 VSports app下载. Diamond-Blackfan anemia 18 AD 3 618310 RPL18 604179 Xp11. 22 . Diamond-Blackfan anemia 14 with mandibulofacial dysostosis XLR 3 300946 TSR2 300945 ▲ Close ▼ TEXT A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-13 (DBA13) is caused by heterozygous mutation in the RPS29 gene (603633) on chromosome 14q.

For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).


▼ Clinical Features

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 VSports手机版. 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 V体育安卓版. (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 V体育ios版. Functional studies showed that the mutations caused haploinsufficiency of RPS29. .

▼ REFERENCES

Mirabello, L. , Macari, E. R. , Jessop, L. , Ellis, S. R. , Myers, T. , Giri, N. , Taylor, A. M. , McGrath, K. E VSports最新版本. , Humphries, J. M. , Ballew, B. J. , Yeager, M. , Boland, J. F. , He, J. , Hicks, B. D. , Burdett, L. , Alter, B. P. , Zon, L. , Savage, S. A. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood 124: 24-32, 2014. [PubMed: 24829207, images, related citations] [Full Text] .


Creation Date:
Cassandra L. Kniffin : 7/28/2014
Edit History:
carol : 04/19/2017
carol : 12/01/2016
carol : 07/29/2014
mcolton : 7/28/2014
ckniffin : 7/28/2014

VSports app下载 - # 615909

DIAMOND-BLACKFAN ANEMIA 13; DBA13


ORPHA: 124;   DO: 0111889;   MONDO: 0014394;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
14q21.3 Diamond-Blackfan anemia 13 615909 Autosomal dominant 3 RPS29 603633

TEXT

A number sign (#) is used with this entry because of evidence that Diamond-Blackfan anemia-13 (DBA13) is caused by heterozygous mutation in the RPS29 gene (603633) on chromosome 14q.

For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (105650).

Clinical Features

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 VSports在线直播. 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 V体育2025版. .

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) VSports. 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. .

REFERENCES

Mirabello, L. , Macari, E. R. , Jessop, L. , Ellis, S. R VSports app下载. , Myers, T. , Giri, N. , Taylor, A. M. , McGrath, K. E. , Humphries, J. M. , Ballew, B. J. , Yeager, M. , Boland, J. F. , He, J. , Hicks, B. D. , Burdett, L. , Alter, B. P. , Zon, L. , Savage, S. A. Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. Blood 124: 24-32, 2014. [PubMed: 24829207] [Full Text: https://doi. org/10. 1182/blood-2013-11-540278] .


Creation Date:
Cassandra L. Kniffin : 7/28/2014

Edit History:
carol : 04/19/2017
carol : 12/01/2016
carol : 07/29/2014
mcolton : 7/28/2014
ckniffin : 7/28/2014



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