A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene

Abstract

Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple. With this paper, we reported a novel frameshift mutation which is led to premature stop codon in CREBBP gene. As a result, c.2057dupC, reported in this paper enlarges the molecular spectrum of disease-causing CREBBP gene.

Rubinstein–Taybi syndrome in diverse populations

“…Frontal view face images of 87 individuals (African, Asian, Caucasian, Latin American, and Middle Eastern) with RSTS (age range: 2 months to 47 years) were collected for facial analysis, including unpublished participants from the present study and additional patients published with consent in the medical literature (Agarwal, Aggarwal, Kabra, & Deorari, 2002; Balci et al, 2004; Balci, Ergün, Yüksel‐Konuk, & Bartsch, 2008; Bartsch et al, 1999; 2010; Bentivegna et al, 2006; Çaksen et al, 2009; Candan, Ornek, & Candan, 2014; Cardona & Kline, 2008; Chiang et al, 2009; Costain, Kannu, & Bowdin, 2018; Das, Ghosh, Biswas, & Nayek, 2013; De Vries et al, 2016; Donadio, Livia, Riccardo, Cristiana, & Giacomo, 2000; Eser, Ayaz, & Yeşil, 2017; Foley, Bunyan, Stratton, Dillon, & Lynch, 2009; Gervasini et al, 2010; Guion‐Almeida & Richieri‐Costa, 1992; Hadzsiev, Gyorsok, Till, Czakó, & Bartsch, 2019; Hellings, Hossain, Martin, & Baratang, 2002; Hennekam, 2006; Herriot & Miedzybrodzka, 2016; Kamenarova et al, 2016; Kosaki et al, 2010, 2011; Lacombe, Saura, Taine, & Battin, 1992; Li & Szybowska, 2010; López et al, 2018; Münevveroglu & Akgöl, 2011; Negri et al, 2016; Okoroma & Izuora, 1987; Shah, Singh, Vijayan, & Girisha, 2011; Solomon et al, 2015; Tamhankar, Merchant, & Shah, 2016; Tang, Guo, Linpeng, & Wu, 2019; Tsai et al, 2011; Van Genderen, Kinds, Riemslag, & Hennekam, 2000; Verhoeven et al, 2009; Wieczorek et al, 2009; Wójcik et al, 2010; Woods et al, 2014; Yamamoto et al, 2005). Images of patients with permission to publish are shown in Figures 1–4, for the African, Middle Eastern, Asian, and Latin American individuals, respectively.…”

Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

“…This patient didn't have broad thumbs or big toes, and nor hirsutism. These atypical features were reported in some RSTS patients with nonsense CREBBP mutations 33 , 34 . We here report the CREBBP mutation spectrum in a series of six Moroccan patients with a clinical diagnosis of RSTS.…”

Manifestações orofaciais da lipodistrofia generalizada congênita: uma revisão sistemática

“…Alguns achados faciais menos frequentes observados nos indivíduos com LGC são também observados em diversas síndromes que promovem dismorfismos faciais, tais como linha frontal do cabelo baixa (Elefteriou, et al, 2004;Friguls, et al, 2008), também observada na síndrome de Rubinstein-Taybi (Eser, et al, 2017), síndrome de Cornélia de Lange (Parenti, et al, 2017) e síndrome de Martsolf (Hozhabri, et al, 2020). A presença de hirsutismos localizados é frequente em várias doenças sistêmicas hereditárias, dentre elas a síndrome de Berardinelli-Seip.…”