Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.
作者信息
Rumsby G, Massoud A F, Avey C, Brook C G
机构信息
Department of Chemical Pathology, UCL Hospitals, London, UK.
出版信息
J Med Genet. 1996 Sep;33(9):798-9. doi: 10.1136/jmg.33.9.798.
Abstract
Mutation analysis in the family of a child with 21-hydroxylase deficiency showed that the father and affected child were homozygous for a mutation, A/C655G, believed to activate a cryptic splice site in intron 2 of the 21-hydroxylase gene. The father, who was clinically asymptomatic, showed no biochemical evidence of disease. These results create problems for the management of future pregnancies in such families and for the interpretation of the risk associated with carrier status for this mutation.
摘要
相似文献
1
Non-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.
J Med Genet. 1996 Sep;33(9):798-9. doi: 10.1136/jmg.33.9.798.
2
CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge.
Ann N Y Acad Sci. 2018 Mar;1415(1):11-20. doi: 10.1111/nyas.13540. Epub 2017 Dec 21.
3
Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
Indian J Med Res. 2017 Feb;145(2):194-202. doi: 10.4103/ijmr.IJMR_329_16.
4
Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):51-56. doi: 10.1016/j.jsbmb.2016.03.035. Epub 2016 Mar 31.
5
Prenatal diagnosis of steroid 21-hydroxylase deficiency by allele-specific amplification.
Fetal Diagn Ther. 2001 Jul-Aug;16(4):237-40. doi: 10.1159/000053918.
6
Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese.
J Clin Endocrinol Metab. 2000 Feb;85(2):597-600. doi: 10.1210/jcem.85.2.6367.
7
Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
Horm Res. 2005;63(3):119-24. doi: 10.1159/000084570. Epub 2005 Mar 17.
8
[CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
Zhonghua Er Ke Za Zhi. 2003 Sep;41(9):670-4.
9
Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
J Clin Endocrinol Metab. 1999 Jul;84(7):2369-72. doi: 10.1210/jcem.84.7.5835.
10
Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.
Clin Lab Med. 1996 Mar;16(1):125-37.
引用本文的文献
1
Antenatal treatment of a mother bearing a fetus with congenital adrenal hyperplasia.
Arch Dis Child Fetal Neonatal Ed. 2000 May;82(3):F176-81. doi: 10.1136/fn.82.3.f176.
本文引用的文献
1
Highly informative typing of the human TNF locus using six adjacent polymorphic markers.
Genomics. 1993 Apr;16(1):180-6. doi: 10.1006/geno.1993.1156.
2
Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.
Clin Endocrinol (Oxf). 1993 Apr;38(4):421-5. doi: 10.1111/j.1365-2265.1993.tb00524.x.
3
Mutation in Scheie syndrome (MPS IS): a G-->A transition creates new splice site in intron 5 of one IDUA allele.
Hum Mutat. 1993;2(2):141-4. doi: 10.1002/humu.1380020215.
4
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation.
J Clin Endocrinol Metab. 1994 May;78(5):1145-52. doi: 10.1210/jcem.78.5.8175971.
5
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot.
Hum Genet. 1994 Apr;93(4):424-8. doi: 10.1007/BF00201668.
6
Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene.
J Clin Endocrinol Metab. 1995 May;80(5):1635-40. doi: 10.1210/jcem.80.5.7745011.
7
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype.
J Clin Endocrinol Metab. 1995 Aug;80(8):2322-9. doi: 10.1210/jcem.80.8.7629224.
8
Divergence between genotype and phenotype in relatives of patients with the intron 2 mutation of steroid-21-hydroxylase.
Endocr Res. 1995 Feb-May;21(1-2):359-64. doi: 10.3109/07435809509030452.
9
Structure of human steroid 21-hydroxylase genes.
Proc Natl Acad Sci U S A. 1986 Jul;83(14):5111-5. doi: 10.1073/pnas.83.14.5111.
10
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.
Proc Natl Acad Sci U S A. 1986 May;83(9):2841-5. doi: 10.1073/pnas.83.9.2841.
Zotero 插件