A rare CYP21A2 haplotype clarifies the phenotype–genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH)-Reference-Cited by-同舟云学术

A rare CYP21A2 haplotype clarifies the phenotype–genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH)

Published:2020-03-17 Issue:4 Volume:47 Page:3049-3052
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Concolino Paola

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-020-05379-6.pdf

Reference13 articles.

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2. Blanchong CA, Zhou B, Rupert KL, Chung EK, Jones KN, Sotos JF, Zipf WB, Rennebohm RM, Yung YuC (2000) Deficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease. J Exp Med 191:2183–2196. https://doi.org/10.1084/jem.191.12.2183

3. Doleschall M, Luczay A, Koncz K, Hadzsiev K, Erhardt É, Szilágyi Á, Doleschall Z, Németh K, Török D, Prohászka Z, Gereben B, Fekete G, Gláz E, Igaz P, Korbonits M, Tóth M, Rácz K, Patócs A (2017) A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics. Eur J Hum Genet 25:702–710. https://doi.org/10.1038/ejhg.2017.38

4. Bánlaki Z, Szabó JA, Szilágyi Á, Patócs A, Prohászka Z, Füst G, Doleschall M (2013) Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene. Genome Biol Evol 5:98–112. https://doi.org/10.1093/gbe/evs121

5. Wedell A, Stengler B, Luthman H (1994) Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency. Hum Genet 94:50–54

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3. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene;Hormones;2022-10-20

4. Genes and Pseudogenes: Complexity of the RCCX Locus and Disease;Frontiers in Endocrinology;2021-07-30

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