Chirteș Camelia, Bogliș Alina, Toth Andrea, Rac Corina, Bănescu Claudia
Laboratory of Genetics, Department of Genetics, Emergency County Hospital, Târgu Mureș, Romania.
Department of Genetics, George Emil Palade University of Medicine, Pharmacy, Science and Technology, Târgu Mureș, Romania.
Front Genet. 2023 Apr 26;14:1179163. doi: 10.3389/fgene.2023.1179163. eCollection 2023.
Raine syndrome is a congenital disorder caused by biallelic mutations in the gene. While most diagnosed cases of the syndrome are lethal in the first few months of life, there are also reports of non-lethal cases with Raine syndrome. The characteristic of this syndrome is typical facial dysmorphism and generalized osteosclerosis, as well as possible intracranial calcification, hearing loss, and seizures. We report a case of a 4-day-old patient at the time of examination, born with a distinct facial dysmorphism, short neck, narrow chest, and curved tibia. The parents, affirmative gypsy and non-consanguineous, had a previous male child born with the same phenotype who died at 4 months old. The computed tomography scan revealed choanal atresia, while transfontanelar ultrasound showed hypoplasia of the frontal and temporal lobes, corpus callosum dysgenesis, and multiple areas of intracranial hyperechogenicity. The chest X-Ray revealed generalized increased bone density. A skeletal disorders gene panel was performed which identified two variants in the gene: a pathogenic variant c.1291C>T (p.Gln431*) and a likely pathogenic variant (c.1135G>A) (p.Gly379Arg), confirming the clinical diagnosis. The parents were also tested, and each was found to carry one of the variants. The particularity of this case is the severe phenotype in a compound heterozygous case that consists of c.1291C>T (p.Gln431*) variant that has recently been reported in the literature. Also, our case is one of the few compound-heterozygous mutations in the gene that has been described in a non-consanguineous marriage.
雷恩综合征是一种由该基因双等位基因突变引起的先天性疾病。虽然该综合征的大多数确诊病例在出生后的头几个月内致命，但也有非致命性雷恩综合征病例的报道。该综合征的特征是典型的面部畸形和全身性骨硬化，以及可能出现的颅内钙化、听力丧失和癫痫发作。我们报告了一例4天大的患儿，检查时发现其面部畸形明显，颈部短，胸部狭窄，胫骨弯曲。患儿父母为非近亲的吉卜赛人，他们之前有一个患有相同表型的男婴，4个月时死亡。计算机断层扫描显示后鼻孔闭锁，经囟门超声显示额叶和颞叶发育不全、胼胝体发育不全以及颅内多个高回声区。胸部X线显示全身骨密度增加。进行了骨骼疾病基因检测，在该基因中发现了两个变异：一个致病性变异c.1291C>T（p.Gln431*）和一个可能致病性变异（c.1135G>A）（p.Gly379Arg），证实了临床诊断。对患儿父母也进行了检测，发现他们各自携带其中一个变异。该病例的特殊之处在于，在一个复合杂合病例中出现了严重的表型，该复合杂合病例包含文献中最近报道的c.1291C>T（p.Gln431*）变异。此外，我们的病例是该基因在非近亲婚姻中所描述的少数复合杂合突变之一。
