DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS

Pelin Özyavuz Çubuk; Ece Keskin; Lamiya Mardan Hacızade; Tuğba Akın Duman; Fatma Nihal Öztürk; Ömer Faruk Karaçorlu; Hasan Taslidere; Mehmet Bugrahan Duz

Makale detayları

DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS

Yazarlar:

Pelin Özyavuz Çubuk | Ece Keskin | Lamiya Mardan Hacızade | Tuğba Akın Duman | Fatma Nihal Öztürk | Ömer Faruk Karaçorlu | Hasan Taslidere | Mehmet Bugrahan Duz

Yayıncı:

Kirikkale University

Ana Başlıklar:

Sağlık Hizmetleri ve Sistemleri (Diğer)

Dergi:

Kırıkkale Üniversitesi Tıp Fakültesi Dergisi Vol.26 Issue 3, pp.300-307

Belge Tipi:

Makale

Yayın Tarihi:

12/2024

Belge Dili:

İngilizce

Document ID (Org No.):

2001334953

pISSN:

2148-9645

Anahtar kelimeler:

Özet:

 Objective: Detection of copy number variations CNVs through molecular karyotyping is a useful method to assess the genetic anomalies with dysmorphic features and multiple congenital anomalies. This study demonstrated the diagnostic rate of chromosomal microarray analysis in patients with specific phenotype, and also contributed the literature with presenting new patients with very rare CNVs. Material and Methods: Chromosomal microarray analysis was performed in 419 patients with dysmorphic features and multiple congenital anomalies. Results: A total of 61 CNVs were detected in 50 patients 12. Two of these patients exhibited a 2q33.1 deletion. While patient 13 presented with speech delay, seizures, behavioral abnormalities, and a 469 kbp deletion disrupting SATB2, patient 14 displayed immune deficiency, failure to thrive, hypothyroidism, diarrhea, cryptorchidism, and ectodermal features such as alopecia, nail dysplasia, and oligodontia. This patient had a 7.5 Mb deletion on 2q33.1q34, which included CTLA4 and was responsible for the immune deficiency symptoms of the patient. The CASP10, was not included in the deletion region. Conclusions: According to our study, co-deletion of CTLA4 and CASP10 did not lead to phenotypic effects like immune deficiency. Rather, only the deletion of the CTLA4 gene may result in hypogammaglobulinemia and immune deficiency. These findings suggest that chromosomal microarray analysis can be a valuable tool in diagnosing rare CNVs and guiding clinical management, particularly in patients with immune deficiency and other congenital anomalies. Identifying specific gene deletions, such as CTLA4, may inform personalized treatment approaches, including immune-modulating therapies, and provide insights for genetic counseling in affected families.

 Objective: Detection of copy number variations CNVs through molecular karyotyping is a useful method to assess the genetic anomalies with dysmorphic features and multiple congenital anomalies. This study demonstrated the diagnostic rate of chromosomal microarray analysis in patients with specific phenotype, and also contributed the literature with presenting new patients with very rare CNVs. Material and Methods: Chromosomal microarray analysis was performed in 419 patients with dysmorphic features and multiple congenital anomalies. Results: A total of 61 CNVs were detected in 50 patients 12. Two of these patients exhibited a 2q33.1 deletion. While patient 13 presented with speech delay, seizures, behavioral abnormalities, and a 469 kbp deletion disrupting SATB2, patient 14 displayed immune deficiency, failure to thrive, hypothyroidism, diarrhea, cryptorchidism, and ectodermal features such as alopecia, nail dysplasia, and oligodontia. This patient had a 7.5 Mb deletion on 2q33.1q34, which included CTLA4 and was responsible for the immune deficiency symptoms of the patient. The CASP10, was not included in the deletion region. Conclusions: According to our study, co-deletion of CTLA4 and CASP10 did not lead to phenotypic effects like immune deficiency. Rather, only the deletion of the CTLA4 gene may result in hypogammaglobulinemia and immune deficiency. These findings suggest that chromosomal microarray analysis can be a valuable tool in diagnosing rare CNVs and guiding clinical management, particularly in patients with immune deficiency and other congenital anomalies. Identifying specific gene deletions, such as CTLA4, may inform personalized treatment approaches, including immune-modulating therapies, and provide insights for genetic counseling in affected families.

 Objective: Detection of copy number variations CNVs through molecular karyotyping is a useful method to assess the genetic anomalies with dysmorphic features and multiple congenital anomalies. This study demonstrated the diagnostic rate of chromosomal microarray analysis in patients with specific phenotype, and also contributed the literature with presenting new patients with very rare CNVs. Material and Methods: Chromosomal microarray analysis was performed in 419 patients with dysmorphic features and multiple congenital anomalies. Results: A total of 61 CNVs were detected in 50 patients 12. Two of these patients exhibited a 2q33.1 deletion. While patient 13 presented with speech delay, seizures, behavioral abnormalities, and a 469 kbp deletion disrupting SATB2, patient 14 displayed immune deficiency, failure to thrive, hypothyroidism, diarrhea, cryptorchidism, and ectodermal features such as alopecia, nail dysplasia, and oligodontia. This patient had a 7.5 Mb deletion on 2q33.1q34, which included CTLA4 and was responsible for the immune deficiency symptoms of the patient. The CASP10, was not included in the deletion region. Conclusions: According to our study, co-deletion of CTLA4 and CASP10 did not lead to phenotypic effects like immune deficiency. Rather, only the deletion of the CTLA4 gene may result in hypogammaglobulinemia and immune deficiency. These findings suggest that chromosomal microarray analysis can be a valuable tool in diagnosing rare CNVs and guiding clinical management, particularly in patients with immune deficiency and other congenital anomalies. Identifying specific gene deletions, such as CTLA4, may inform personalized treatment approaches, including immune-modulating therapies, and provide insights for genetic counseling in affected families.

 Amaç: Moleküler karyotipleme yoluyla kopya sayısı varyasyonlarının CNVler tespiti, dismorfik özellikler ve birden fazla konjenital anomali MCA ile ilişkili genetik anomalileri ortaya çıkarmak için kullanışlıdır. Bu çalışma, belirli fenotipe sahip hastalarda kromozomal mikrodizin analizinin tanısal oranını göstermekte ve çok nadir CNVlere sahip yeni hastaları sunarak literatüre katkıda bulunmaktadır. Gereç ve Yöntemler: Dismorfik özellikler ve birden fazla konjenital anomaliye sahip 419 hastada kromozomal mikrodizin analizi gerçekleştirildi. Bulgular: Toplamda 50 hastada 12 61 CNV tespit edildi. Bu hastalardan ikisinde 2q33.1 delesyonu saptandı. Hasta 13 konuşma gecikmesi, nöbetler, davranış bozuklukları ve SATB2 genini bozan 469 kbp delesyon ile kendini gösterirken; hasta 14, immün yetmezlik, büyüme geriliği, hipotiroidizm, ishal, inmemiş testisler ve alopesi, tırnak displazisi ve oligodonti gibi ektodermal özellikler sergiledi. Bu hastada, 2q33.1q34 bölgesinde CTLA4 genini içeren ve immün yetmezlik belirtilerine neden olan 7.5 Mb delesyon mevcuttu. CASP10 geni ise delesyon bölgesinde yer almamaktadır. Sonuç: Çalışmamıza göre, CTLA4 ve CASP10 genlerinin birlikte delesyonu bağışıklık yetmezliği gibi fenotipik etkilere yol açmaz iken, yalnızca CTLA4 geninin delesyonu hipogamaglobulinemi ve bağışıklık yetmezliği ile sonuçlanabilir. Bu bulgular, moleküler karyotiplemenin nadir CNVlerin tanısında ve doğumsal anomalileri olan hastaların klinik yönetiminde değerli bir araç olabileceğini göstermektedir. CTLA4 gibi spesifik gen delesyonlarının belirlenmesi, bağışıklık düzenleyici tedaviler de dahil olmak üzere kişiselleştirilmiş tedavi yaklaşımlarına kapı açabilir ve etkilenen ailelerde genetik danışmanlık için önemli bilgiler sağlayabilir.

Makale detayları

DIAGNOSTIC VALUE OF CHROMOSOMAL MICROARRAY ANALYSIS IN PATIENTS WITH CONGENITAL ANOMALIES AND DYSMORPHIC FEATURES; DETAILS OF TWO NEW PATIENTS WITH 2q33 DELETIONS

Yazarlar:

Pelin Özyavuz Çubuk | Ece Keskin | Lamiya Mardan Hacızade | Tuğba Akın Duman | Fatma Nihal Öztürk | Ömer Faruk Karaçorlu | Hasan Taslidere | Mehmet Bugrahan Duz

Yayıncı:

Kirikkale University

Ana Başlıklar:

Sağlık Hizmetleri ve Sistemleri (Diğer)

Dergi:

Kırıkkale Üniversitesi Tıp Fakültesi Dergisi Vol.26 Issue 3, pp.300-307

Belge Tipi:

Makale

Yayın Tarihi:

12/2024

Belge Dili:

İngilizce

Document ID (Org No.):

2001334953

pISSN:

2148-9645

Congenital anomaly

dysmorphic features

molecular karyotyping

2q33.1 deletion

chromosomal microarrayKonjenital anomali

dismorfik bulgular

moleküler karyotipleme

2q33.1 delesyonu

kromozomal mikrodizin

Sayı

Makale detayları

Yazarlar: Pelin Özyavuz Çubuk | Ece Keskin | Lamiya Mardan Hacızade | Tuğba Akın Duman | Fatma Nihal Öztürk | Ömer Faruk Karaçorlu | Hasan Taslidere | Mehmet Bugrahan Duz

Yayıncı: Kirikkale University

Ana Başlıklar: Sağlık Hizmetleri ve Sistemleri (Diğer)

Dergi: Kırıkkale Üniversitesi Tıp Fakültesi Dergisi Vol.26 Issue 3, pp.300-307

Belge Tipi: Makale

Yayın Tarihi: 12/2024

Belge Dili: İngilizce

Document ID (Org No.): 2001334953

pISSN: 2148-9645

Sayı

Yazarlar:

Pelin Özyavuz Çubuk | Ece Keskin | Lamiya Mardan Hacızade | Tuğba Akın Duman | Fatma Nihal Öztürk | Ömer Faruk Karaçorlu | Hasan Taslidere | Mehmet Bugrahan Duz

Yayıncı:

Kirikkale University

Ana Başlıklar:

Sağlık Hizmetleri ve Sistemleri (Diğer)

Dergi:

Kırıkkale Üniversitesi Tıp Fakültesi Dergisi Vol.26 Issue 3, pp.300-307

Belge Tipi:

Makale

Yayın Tarihi:

12/2024

Belge Dili:

İngilizce

Document ID (Org No.):

2001334953

pISSN:

2148-9645