Touati A, Nouri S, Halleb Y, Kmiha S, Mathlouthi J, Tej A, Mahdhaoui N, Ben Ahmed A, Saad A, Bensignor C, H'mida Ben Brahim D
Department of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Street ibn jazzar, 4000 Sousse, Tunisia; High Institute of Biotechnology, Monastir University, Street Taher Hadded, BP 74, Monastir 5000, Tunisia.
Department of Neonatology, Farhat Hached University Hospital, Sousse, Tunisia.
Arch Pediatr. 2019 Feb;26(2):102-107. doi: 10.1016/j.arcped.2018.11.012. Epub 2019 Jan 10.
Sanjad-Sakati syndrome (SSS; OMIM 241410) is a rare autosomal recessive disorder found almost exclusively in people of Arab origin. It is characterized by congenital hypoparathyroidism, severe prenatal and postnatal growth retardation, and distinct facial dysmorphism. The molecular pathology of this syndrome was shown to be due to a mutation in the tubulin-specific chaperone E (TBCE) gene in chromosomal area 1q42-q43. We aimed to detect and confirm the common mutation responsible for SSS in Tunisian patients and review the literature in order to create a set of clinical diagnostic criteria that might provide appropriate indications for molecular testing.
Three Tunisian patients with clinical feature of SSS were examined via direct Sanger sequencing of exon 3 of the TBCE gene.
Mutation analysis of the TBCE gene revealed the common 12-bp (155-166del) deletion in three new patients, thus raising the number of reported SSS patients to 73. Reviewing the literature, we suggest a scoring system that assigns one point each for major criteria and one half point for minor criteria.
SSS is an autosomal recessive disorder found in the Middle Eastern population with an estimated incidence of 1 per 40,000-100,000 live births in Saudi Arabia. Reviewing the literature on both its clinical and biochemical characteristics, we suggest for the first time, based on defined major and minor SSS criteria, a clinical scoring system for the diagnosis of SSS. On the one hand, an established scoring system will provide appropriate indications for molecular testing and, on the other hand, reviewed data on SSS will help delineate the phenotype and draw a distinction between differential diagnoses.
桑贾德 - 萨卡蒂综合征（SSS；OMIM 241410）是一种罕见的常染色体隐性疾病，几乎仅在阿拉伯裔人群中发现。其特征为先天性甲状旁腺功能减退、严重的产前和产后生长发育迟缓以及独特的面部畸形。该综合征的分子病理学显示是由于染色体区域1q42 - q43中的微管蛋白特异性伴侣E（TBCE）基因突变所致。我们旨在检测并确认突尼斯患者中导致SSS的常见突变，并回顾文献以创建一套临床诊断标准，为分子检测提供适当的指征。
通过对TBCE基因第3外显子进行直接桑格测序，对3例具有SSS临床特征的突尼斯患者进行检测。
TBCE基因的突变分析在3例新患者中发现了常见的12个碱基对（155 - 166del）缺失，从而使报告的SSS患者数量增至73例。回顾文献，我们建议一种评分系统，主要标准每项计1分，次要标准每项计0.5分。
SSS是一种常染色体隐性疾病，在中东人群中发现，在沙特阿拉伯估计每40,000 - 100,000例活产中有1例发病。回顾其临床和生化特征的文献，我们首次基于明确的SSS主要和次要标准，提出了一种用于SSS诊断的临床评分系统。一方面，既定的评分系统将为分子检测提供适当的指征，另一方面，关于SSS的综述数据将有助于明确表型并区分鉴别诊断。
