Kameli Reyhaneh, Ashrafi Mahmoud Reza, Ehya Farveh, Alizadeh Houman, Hosseinpour Sareh, Garshasbi Masoud, Tavasoli Ali Reza
Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Department of Medical Biotechnology, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Eur J Med Genet. 2020 Jan;63(1):103629. doi: 10.1016/j.ejmg.2019.02.002. Epub 2019 Feb 13.
RIN2 syndrome also known as MACS syndrome is a rare autosomal recessive connective tissue disorder caused by RIN2 mutations and is accompanied by following clinical features: macrocephaly, coarsening of facial features, downward slanting palpebral fissures, Puffy droopy eyelids, full everted lips, soft redundant skin especially in face, gum hypertrophy, irregular dentition, sparse scalp hair, skeletal problems, joint hypermobility and scoliosis. RIN2 gene encodes the RAS and RAB interactor 2 and biallelic mutations in this gene cause cell trafficking dysfunction. Here we reported the eleventh patient of RIN2 syndrome in a 4 yr-old boy, from Tehran, Iran as the youngest reported patient so far. Whole exome sequencing revealed a novel frameshift homozygous variant of NM_001242581.1: c.2251dup; p.(Leu751Profs*9) in RIN2 gene. In addition to the previously reported symptoms for the RIN2 syndrome, white matter abnormalities in his brain MRI were noticed. Our findings expand the clinical spectrum of MACS syndrome due to mutation in RIN2 gene.
RIN2综合征也称为MACS综合征，是一种由RIN2突变引起的罕见常染色体隐性结缔组织疾病，伴有以下临床特征：巨头畸形、面部特征粗糙、睑裂向下倾斜、眼睑浮肿下垂、嘴唇外翻饱满、皮肤柔软松弛（尤其是面部）、牙龈增生、牙列不齐、头皮毛发稀疏、骨骼问题、关节活动过度和脊柱侧弯。RIN2基因编码RAS和RAB相互作用蛋白2，该基因的双等位基因突变导致细胞运输功能障碍。我们在此报告了一名来自伊朗德黑兰的4岁男孩，他是RIN2综合征的第11例患者，也是迄今为止报告的最年轻患者。全外显子组测序在RIN2基因中发现了一个新的移码纯合变异体NM_001242581.1:c.2251dup；p.(Leu751Profs*9)。除了之前报道的RIN2综合征症状外，在他的脑部MRI中还发现了白质异常。我们的研究结果扩展了因RIN2基因突变导致的MACS综合征的临床谱。
