Phenotypic spectrum of CHARGE syndrome based on clinical characteristics

MLPA analysis of all coding exons of the CHD7 gene revealed no pathogenic deletion/duplication.Conclusion: CHARGE syndrome should be considered as a differential diagnosis to detect the mild end of the spectrum, even if thepatient does not fit the criteria.

📌 3 Maddede Bu Makale

🎯

Amaç & Hipotez:Background/aim: CHARGE syndrome is a rare autosomal dominant disease with multiple congenital anomalies and cognitiveimpairment, which is caused by mutations in the CHD7 gene.

📊

Temel Bulgular & Veri:All patientswere tested for karyotype analysis and CHD7 gene mutation/deletion.Results: In the study population, 6 different mutations were detected in 5 patients, and 2 different polymorphisms were detected in theCHD7 gene in 3 patients.

💡

Sonuç & Katkı:MLPA analysis of all coding exons of the CHD7 gene revealed no pathogenic deletion/duplication.Conclusion: CHARGE syndrome should be considered as a differential diagnosis to detect the mild end of the spectrum, even if thepatient does not fit the criteria.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Abstract

Background/aim: CHARGE syndrome is a rare autosomal dominant disease with multiple congenital anomalies and cognitiveimpairment, which is caused by mutations in the CHD7 gene. This study aimed to disclose the mild end of the phenotypic spectrum ofCHARGE syndrome, which has a highly variable expressivity.Materials and methods: Twenty-one patients who had at least one of the major symptoms of CHARGE syndrome (coloboma, choanalatresia, characteristic ear anomalies, semicircular canal hypoplasia, and cranial nerve anomalies) were included in the study. All patientswere tested for karyotype analysis and CHD7 gene mutation/deletion.Results: In the study population, 6 different mutations were detected in 5 patients, and 2 different polymorphisms were detected in theCHD7 gene in 3 patients. MLPA analysis of all coding exons of the CHD7 gene revealed no pathogenic deletion/duplication.Conclusion: CHARGE syndrome should be considered as a differential diagnosis to detect the mild end of the spectrum, even if thepatient does not fit the criteria.

🔖

Bu Makaleye Atıf Yap

ÇANKAYA, T., ERÇAL, D., ÜLGENALP, A., GÜRSOY, S., BOZKAYA, Ö. G., ATAMAN, E., KILIÇARSLAN, Ö. A., RANDA, C., HAZAN, F. (2022). Phenotypic spectrum of CHARGE syndrome based on clinical characteristics. Turkish Journal of Medical Sciences, Cilt: 48 - Sayı: 5, 911–915. https://ajindex.com/articles/610383

📄 Tam Metin PDF Okuyucu

Yeni Sekmede Aç ↗

↗Yeni Sekme

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (10)

Sanlaville D, Verloes A. CHARGE syndrome: an update. Eur J Hum Genet 2007; 15: 389-399.
Lalani SR, Hefner MA, Belmont JW, Davenport SLH. CHARGE syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, editors. GeneReviews [Internet]. Seattle, WA, USA: University of Washington, Seattle; 2012.
Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 2011; 48: 334-342.
Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. Clin Genet 2013; 83: 125-134.
Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A 2010; 152A: 674-686.
Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis 2006; 1: 34. Abadie V, Wiener-Vacher S, Morisseau-Durand MP, Porée C, Amiel J, Amanou L, Peigné C, Lyonnet S, Manach Y. Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development. Eur J Pediatr 2000; 159: 569-574.
Green GE, Huq FS, Emery SB, Mukherji SK, Martin DM. CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia. Otol Neurotol 2014; 35: 1466-1470.
Ceruti S, Stinckens C, Cremers CW, Casselman JW. Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. Otol Neurotol 2002; 23: 200-207.
Ming JE, Russell KL, Bason L, McDonald-McGinn DM, Zackai EH. Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from CHARGE association. Am J Med Genet 2003; 123A: 249-252.
Igawa HH, Nishizawa N, Sugihara T, Inuyama Y. Inner ear abnormalities in Kabuki make-up syndrome: report of three cases. Am J Med Genet 2000; 92: 87-89.