背景:Say-Barber-Biesecker-Young-Simpson(SBBYS)(OMIM#603736,Ohdo综合征变体)是一种罕见的严重的眼睑智力障碍综合征,通常以全球发育迟缓为特征,独特的面部特征,和智力残疾伴多种先天性异常,包括骨骼受累,失踪,或者膝盖骨不发达,和生殖器异常,在受影响的男性中。研究表明,KAT6B基因突变,这是赖氨酸乙酰转移酶编码基因,与SBBYS综合征有关。所有已知的变体是导致蛋白质截短的显性从头突变。
方法:一个14岁的伊朗阿塞拜疆男孩,患有智力障碍,明显的畸形面部特征,如张开嘴的表情,稀疏的内侧眉毛,向上倾斜的眼睛,后背褶皱,宽阔的鼻梁,低设定的耳朵,前耳朵,短的philtrum,超端粒,本案例研究中介绍了小眼症。据报道,隐睾。神经,患者眼神接触不良,低张力,和言语困难。在骨骼X射线中,观察到不发达的膝盖骨具有一些新特征。
结论:我们介绍了伊朗人群中首例SBBYS综合征与一些新的异常特征相关的病例。根据这个诊断,我们可以为患者提供合适的管理计划,并为其家人提供适当的遗传咨询。
BACKGROUND: Say-Barber-Biesecker-Young-Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe
blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males. It has been shown that mutations in the KAT6B gene, which is a lysine acetyltransferase-encoding gene, have been associated with SBBYS syndrome. All the known variants are dominant de novo mutations that result in protein truncation.
METHODS: A 14-year-old Iranian Azeri boy with an intellectual disability, distinct dysmorphic facial features such as open-mouth expression, sparse medial eyebrows, widely spaced upward-slanted eyes, epicanthal folds, broad nasal bridge, low-set ears, anteverted ears, short philtrum, hypertelorism, microphthalmia is presented in this case study. Cryptorchidism was reported. Neurologically, the patient presented with poor eye contact, hypotonia, and speech difficulties. In the skeletal X-ray, underdeveloped kneecaps with some new features were observed.
CONCLUSIONS: We present the first case of SBBYS syndrome in association with some new anomaly features in the Iranian population. Based on this diagnosis, we could provide the patient with a suitable plan of management as well as appropriate genetic counseling for his family.