Ahvaz Jundishapur University of Medical Sciences, School of Medicine, Department of Pediatrics, Ahvaz, Iran; Ahvaz Jundishapur University of Medical Sciences, Diabetes Research Center, Ahvaz, Iran.
Shahid Chamran University of Ahvaz, School of Science, Department of Genetics, Ahvaz, Iran.
J Pediatr (Rio J). 2020 Jan-Feb;96(1):60-65. doi: 10.1016/j.jped.2018.07.005. Epub 2018 Aug 4.
Permanent hypoparathyroidism can be presented as part of genetic disorders such as Sanjad-Sakati syndrome (also known as hypoparathyroidism-intellectual disability-dysmorphism), which is a rare autosomal recessive disorder. Our aim was to confirm the diagnosis of a group of patients with dysmorphism, poor growth, and hypoparathyroidism clinically labeled as Sanjad-Sakati syndrome and to identify for the first time the genetic variations on Iranian patients with the same ethnic origin.
In this study, 29 cases from 23 unrelated Arab kindreds with permanent hypoparathyroidism and dysmorphism indicating Sanjad-Sakati syndrome were enrolled for 10 years in the southwest of Iran. The mutational analysis by direct sequencing of the tubulin folding cofactor E gene was performed for the patients and their families, as well as their fetuses using genomic DNA.
Twenty-eight out of 29 cases had parental consanguinity. Twenty-seven cases presented with hypocalcemia seizure and two were referred because of poor weight gain and were found to have asymptomatic hypocalcemia. The dysmorphic features, hypocalcemia in the setting of low to normal parathyroid hormone levels and high phosphorus led to the diagnosis of these cases. Sequencing analysis of the tubulin folding cofactor E gene revealed a homozygous 12-bp deletion (c.155-166del) for all patients. Following that, prenatal diagnosis was performed for eight families, and two fetuses with a homozygous 12-bp deletion were identified.
These results make it much easier and faster to diagnose this syndrome from other similar dysmorphisms and also help to detect carriers, as well as prenatal diagnosis of Sanjad-Sakati syndrome in high-risk families in this population.
永久性甲状旁腺功能减退症可作为 Sanjad-Sakati 综合征（也称为甲状旁腺功能减退症-智力障碍-发育不良）等遗传疾病的一部分表现，这是一种罕见的常染色体隐性疾病。我们的目的是确认一组具有发育不良、生长不良和甲状旁腺功能减退症的患者的诊断，这些患者临床上被标记为 Sanjad-Sakati 综合征，并首次确定具有相同种族起源的伊朗患者的遗传变异。
在这项研究中，从伊朗西南部的 23 个无关阿拉伯家族中招募了 29 名患有永久性甲状旁腺功能减退症和发育不良的患者，这些患者的临床表现符合 Sanjad-Sakati 综合征。对患者及其家属以及他们的胎儿进行了 tubulin 折叠共因子 E 基因突变分析。
29 例中有 28 例存在父母近亲结婚。27 例患者出现低钙血症发作，2 例因体重增长不良就诊，发现无症状低钙血症。这些病例的诊断依据是发育不良特征、低钙血症伴低至正常甲状旁腺激素水平和高磷血症。对 tubulin 折叠共因子 E 基因进行测序分析发现所有患者均存在 12 个碱基对的纯合缺失（c.155-166del）。随后，对 8 个家庭进行了产前诊断，发现 2 个胎儿存在 12 个碱基对的纯合缺失。
这些结果使得更容易和更快地从其他类似的发育不良中诊断出这种综合征，并有助于发现携带者，以及在该人群中高风险家庭的 Sanjad-Sakati 综合征的产前诊断。
