Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experience

Ali Topak

Makale detayları

Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experience

Yazarlar:

Ali Topak

Yayıncı:

Prusa Medical Publishing

Ana Başlıklar:

Medical Genetics (Excl. Cancer Genetics)

Dergi:

The European Research Journal Vol.9 Issue 6, pp.1438-1443

Belge Tipi:

Makale

Yayın Tarihi:

4/2023

Belge Dili:

İngilizce

Document ID (Org No.):

2001294106

pISSN:

2149-3189

Anahtar kelimeler:

Özet:

 Objective: The aim of this study is to reveal the diagnostic yield of the progressive familial intrahepatic cholestasis PFIC gene panel that we have used in the diagnosis of this patient group, which accounts for approximately 10 of cholestatic liver disease, and to report the clinical findings of our patients with the detected variants. Methods: In this study, we retrospectively evaluated the results of molecular genetic analysis of pediatric patients whose PFIC gene panel contained the ATP8B1, ABCB11, and ABCB4 genes. Results: In 10 patients, 12 different variants were detected that could explain the PFIC clinical picture. Three of these variants were considered novel variants. Conclusion: Our study demonstrates the usefulness of the NGS panel in diagnosing pediatric patients with PFIC findings. This diagnostic method also contributed to the variant spectrum of PFIC-related genes.

 Objective: The aim of this study is to reveal the diagnostic yield of the progressive familial intrahepatic cholestasis PFIC gene panel that we have used in the diagnosis of this patient group, which accounts for approximately 10 of cholestatic liver disease, and to report the clinical findings of our patients with the detected variants. Methods: In this study, we retrospectively evaluated the results of molecular genetic analysis of pediatric patients whose PFIC gene panel contained the ATP8B1, ABCB11, and ABCB4 genes. Results: In 10 patients, 12 different variants were detected that could explain the PFIC clinical picture. Three of these variants were considered novel variants. Conclusion: Our study demonstrates the usefulness of the NGS panel in diagnosing pediatric patients with PFIC findings. This diagnostic method also contributed to the variant spectrum of PFIC-related genes.

 Objective: The aim of this study is to reveal the diagnostic yield of the progressive familial intrahepatic cholestasis PFIC gene panel that we have used in the diagnosis of this patient group, which accounts for approximately 10 of cholestatic liver disease, and to report the clinical findings of our patients with the detected variants. Methods: In this study, we retrospectively evaluated the results of molecular genetic analysis of pediatric patients whose PFIC gene panel contained the ATP8B1, ABCB11, and ABCB4 genes. Results: In 10 patients, 12 different variants were detected that could explain the PFIC clinical picture. Three of these variants were considered novel variants. Conclusion: Our study demonstrates the usefulness of the NGS panel in diagnosing pediatric patients with PFIC findings. This diagnostic method also contributed to the variant spectrum of PFIC-related genes.

 Objective: The aim of this study is to reveal the diagnostic yield of the progressive familial intrahepatic cholestasis PFIC gene panel that we have used in the diagnosis of this patient group, which accounts for approximately 10 of cholestatic liver disease, and to report the clinical findings of our patients with the detected variants. Methods: In this study, we retrospectively evaluated the results of molecular genetic analysis of pediatric patients whose PFIC gene panel contained the ATP8B1, ABCB11, and ABCB4 genes. Results: In 10 patients, 12 different variants were detected that could explain the PFIC clinical picture. Three of these variants were considered novel variants. Conclusion: Our study demonstrates the usefulness of the NGS panel in diagnosing pediatric patients with PFIC findings. This diagnostic method also contributed to the variant spectrum of PFIC-related genes.

Makale detayları

Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experience

Yazarlar:

Ali Topak

Yayıncı:

Prusa Medical Publishing

Ana Başlıklar:

Medical Genetics (Excl. Cancer Genetics)

Dergi:

The European Research Journal Vol.9 Issue 6, pp.1438-1443

Belge Tipi:

Makale

Yayın Tarihi:

4/2023

Belge Dili:

İngilizce

Document ID (Org No.):

2001294106

pISSN:

2149-3189

Progressive familial intrahepatic cholestasis

novel

ABCB11

ABCB4

ATP8B1

Sayı

Makale detayları

Next-generation sequencing panel test results in pediatric patients with progressive familial intrahepatic cholestasis: a single-center experience

Yazarlar: Ali Topak

Yayıncı: Prusa Medical Publishing

Ana Başlıklar: Medical Genetics (Excl. Cancer Genetics)

Dergi: The European Research Journal Vol.9 Issue 6, pp.1438-1443

Belge Tipi: Makale

Yayın Tarihi: 4/2023

Belge Dili: İngilizce

Document ID (Org No.): 2001294106

pISSN: 2149-3189

Progressive familial intrahepatic cholestasis

novel

ABCB11

ABCB4

ATP8B1

Sayı

Yazarlar:

Ali Topak

Yayıncı:

Prusa Medical Publishing

Ana Başlıklar:

Medical Genetics (Excl. Cancer Genetics)

Dergi:

The European Research Journal Vol.9 Issue 6, pp.1438-1443

Belge Tipi:

Makale

Yayın Tarihi:

4/2023

Belge Dili:

İngilizce

Document ID (Org No.):

2001294106

pISSN:

2149-3189