Correlation of phenotype with  the CYP21 gene mutation analysis of classic type congenital adrenal hyperplasia due to 21-Hydroxylase deficiency

Berk ÖZYILMAZ; Murat AYDIN; Gönül OĞUR

Makale detayları

Correlation of phenotype with the CYP21 gene mutation analysis of classic type congenital adrenal hyperplasia due to 21-Hydroxylase deficiency

Yazarlar:

Berk ÖZYILMAZ | Murat AYDIN | Gönül OĞUR

Yayıncı:

Ondokuz Mayıs University

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Journal of Experimental and Clinical Medicine 2018 Vol.35 Issue 3, pp.63-69

Belge Tipi:

Makale

Yayın Tarihi:

10/2019

Belge Dili:

İngilizce

Document ID (Org No.):

2000507914

Sıklık:

Üç Aylık

eISSN:

1309-5129

pISSN:

1309-4483

Özet:

 


INTRODUCTION


Ambiguous genitalia is seen as the most
common phenotypic reflection of sexual development disorders. Congenital
adrenal hyperplasia (CAH) is the most common cause of ambiguous genitalia,
while the most common cause of CAH is a 21-hydroxylase deficiency with a rate
of 90-95%. The disease is caused by mutations in the CYP21A2 gene located at
6p21.3. It is inherited in an autosomal recessive manner. Seven previously
identified point mutations,  an 8-bp
deletion and large deletions, have significant role in the etiology of the
disease. 


In this study, we aimed to report CYP21
molecular genetic evaluation by RFLP and MLPA methods in classic CAH patients
with 21-hydroxylase deficiency.


MATERIAL
AND METHODS


In this study, 26 patients with pre-diagnosis
of Classic Type Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
were reported. Seven previously identified point mutations, an 8-bp deletion,
and large deletions were analyzed by PCR-RFLP methods in the patient group.
For the MLPA study, SALSA MLPA KIT P050-B2
CAH (Lot0408) kit which was produced by MRC Holland was used.


RESULTS


In 21 (80%) of 26 patients analyzed, causative
mutations were found. The most frequent mutation was the large deletions (6
patients, 12 allels), accounting 23% of the patients. 


CONCLUSION



















In 21 (80.7%) of 26 patients, the causative
mutations were found by using PCR (8-bp del. and large deletions) and RFLP (7
known point mutations) methods. MLPA
analysis confirmed all of the deletions detected by PCR-RFLP, and the 83% of
the detectable point mutations with MLPA. A complete genotype-phenotype
relationship could be established in all patients in whom mutation could be
detected in the study group.


.

Makale detayları

Correlation of phenotype with the CYP21 gene mutation analysis of classic type congenital adrenal hyperplasia due to 21-Hydroxylase deficiency

Yazarlar: Berk ÖZYILMAZ | Murat AYDIN | Gönül OĞUR

Yayıncı: Ondokuz Mayıs University

Ana Başlıklar: Sağlık teşvikleri

Dergi: Journal of Experimental and Clinical Medicine 2018 Vol.35 Issue 3, pp.63-69

Belge Tipi: Makale

Yayın Tarihi: 10/2019

Belge Dili: İngilizce

Document ID (Org No.): 2000507914

Sıklık: Üç Aylık

eISSN: 1309-5129

pISSN: 1309-4483

Sayı

Yazarlar:

Berk ÖZYILMAZ | Murat AYDIN | Gönül OĞUR

Yayıncı:

Ondokuz Mayıs University

Ana Başlıklar:

Sağlık teşvikleri

Dergi:

Journal of Experimental and Clinical Medicine 2018 Vol.35 Issue 3, pp.63-69

Belge Tipi:

Makale

Yayın Tarihi:

10/2019

Belge Dili:

İngilizce

Document ID (Org No.):

2000507914

Sıklık:

Üç Aylık

eISSN:

1309-5129

pISSN:

1309-4483