Difficulty in differential diagnostics of congenital adrenal
hyperplasia – family report

D 2007

Difficulty in differential diagnostics of congenital adrenal hyperplasia – family report

VYCHODILOVÁ, Z.; E. HRABINCOVÁ; J. VŠETIČKA a Libor KOZÁK

Základní údaje

Originální název

Difficulty in differential diagnostics of congenital adrenal hyperplasia – family report

Název česky

Problémy v diagnostice kongenitální adrenální hyperplázie - kazuistika

Autoři

VYCHODILOVÁ, Z.; E. HRABINCOVÁ; J. VŠETIČKA a Libor KOZÁK

Vydání

Praha, Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy, s. 84-84, 2007

Nakladatel

Všeobecná fakultní nemocnice v Praze

Další údaje

Jazyk

angličtina

Typ výsledku

Stať ve sborníku

Obor

Genetika a molekulární biologie

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Organizační jednotka

Přírodovědecká fakulta

ISBN

978-80-239-9322-6

Klíčová slova anglicky

Congenital adrenal hyperplacia; differential diagnostics; CYP21 gene; MLPA

Štítky

Congenital adrenal hyperplacia, CYP21 gene, differential diagnostics, MLPA

Změněno: 28. 1. 2008 15:06, doc. RNDr. Lenka Fajkusová, CSc.

Anotace

V originále

We present here an example of difficulty during DNA analysis in one CAH family and improvement of diagnostics after establishing of the MLPA method and sequencing. The first family member was sent for the molecular examination (carrying status) because the CAH was presented in her aunt and cousin. Test for 11 prevalent mutations was performed. Despite the woman had not any clinical symptoms, we found that she carry point mutation I172N in homozygote state. Consecutively, other family members, including normal and affected ones were examined. Equivocal results were obtained, including the I172N mutation manifested on the mutant allele in mosaic-like form at the rate of approximately 20%:80% and the R356W mutation manifested on the mutant allele in mosaic-like form at the rate of approximately 60%:40%. Using the MLPA technique and sequencing, we identified two types of changes of nucleotide sequence in the annealing place of the 3-primer, which was used for specific amplification of the CYP21 gene. The result is either full or partial or no amplification of CYP21 gene of the given allele. This quantitatively different level of amplification of particular alleles caused false positive result of the I172N/I172N examined women. In the reality, she carry only one gene with the I172N mutation. Her second allele was not amplified. In conclusion, polymorphisms in the annealing place of primers can cause difficulty in molecular diagnostics of CAH.

Návaznosti

LC06023, projekt VaV

Název: Integrované bioanalytické technologie pro mikroanalýzy a diagnostiku s využitím LIF a hmotnostní spektrometrie

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Integrované bioanalytické technologie pro mikroanalýzy a diagnostiku s využitím LIF a hmotnostní spektrometrie

Citovat

VYCHODILOVÁ, Z.; E. HRABINCOVÁ; J. VŠETIČKA a Libor KOZÁK. Difficulty in differential diagnostics of congenital adrenal hyperplasia – family report. In Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy. Praha: Všeobecná fakultní nemocnice v Praze, 2007, s. 84. ISBN 978-80-239-9322-6.

@inproceedings{752087,
   author = {Vychodilová, Z. and Hrabincová, E. and Všetička, J. and Kozák, Libor},
   address = {Praha},
   booktitle = {Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy},
   keywords = {Congenital adrenal hyperplacia; differential diagnostics; CYP21 gene; MLPA},
   language = {eng},
   location = {Praha},
   isbn = {978-80-239-9322-6},
   pages = {84-84},
   publisher = {Všeobecná fakultní nemocnice v Praze},
   title = {Difficulty in differential diagnostics of congenital adrenal hyperplasia – family report},
   year = {2007}
}

TY  - CONF
ID  - 752087
AU  - Vychodilová, Z. - Hrabincová, E. - Všetička, J. - Kozák, Libor
PY  - 2007
TI  - Difficulty in differential diagnostics of congenital adrenal hyperplasia – family report
PB  - Všeobecná fakultní nemocnice v Praze
CY  - Praha
SN  - 9788023993226
KW  - Congenital adrenal hyperplacia
KW  - differential diagnostics
KW  - CYP21 gene
KW  - MLPA
N2  - We present here an example of difficulty during DNA analysis in one CAH family and improvement of diagnostics after establishing of the MLPA method and sequencing. The first family member was sent for the molecular examination (carrying status) because the CAH was presented in her aunt and cousin. Test for 11 prevalent mutations was performed. Despite the woman had not any clinical symptoms, we found that she carry point mutation I172N in homozygote state. Consecutively, other family members, including normal and affected ones were examined. Equivocal results were obtained, including the I172N mutation manifested on the mutant allele in mosaic-like form at the rate of approximately 20%:80% and the R356W mutation manifested on the mutant allele in mosaic-like form at the rate of approximately 60%:40%. Using the MLPA technique and sequencing, we identified two types of changes of nucleotide sequence in the annealing place of the 3-primer, which was used for specific amplification of the CYP21 gene. The result is either full or partial or no amplification of CYP21 gene of the given allele. This quantitatively different level of amplification of particular alleles caused false positive result of the I172N/I172N examined women. In the reality, she carry only one gene with the I172N mutation. Her second allele was not amplified. In conclusion, polymorphisms in the annealing place of primers can cause difficulty in molecular diagnostics of CAH.
ER  -

VYCHODILOVÁ, Z.; E. HRABINCOVÁ; J. VŠETIČKA a Libor KOZÁK. Difficulty in differential diagnostics of congenital adrenal hyperplasia – family report. In \textit{Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy}. Praha: Všeobecná fakultní nemocnice v Praze, 2007, s.~84. ISBN~978-80-239-9322-6.

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