Division of Pediatric Genetics, Department of Pediatrics, 37515Hacettepe University Faculty of Medicine, Ankara, Turkey.
Department of Medical Genetics, 64005Hacettepe University Faculty of Medicine, Ankara, Turkey.
J Child Neurol. 2021 Sep;36(10):816-822. doi: 10.1177/08830738211004736. Epub 2021 Apr 19.
Kohlschütter-Tönz syndrome (OMIM 226750) is a rare disorder with autosomal recessive inheritance among epileptic encephalopathy syndromes. To date, only 31 Kohlschütter-Tönz syndrome families have been reported in the literature. Early-onset epilepsy, progressive global developmental delay, and amelogenesis imperfecta are the main components of the syndrome. Mutations in (MIM 226750) and (MIM 615905) are responsible for Kohlschütter-Tönz syndrome. Here, we report on the clinical and molecular characteristics of 3 individuals from 2 families, all harboring the same homozygous novel deleterious variant in , along with a long-term follow-up and review of the literature. Although the phenotypic features are almost consistent in Kohlschütter-Tönz syndrome, overlooking dental findings and diverse degrees of variability in clinical findings makes diagnosis challenging occasionally. Because there is a limited number of reported patients, identification of new patients and delineation of clinical and molecular findings will increase the awareness of clinicians and enable establishing genotype-phenotype correlations.
科赫舒特-通茨综合征（OMIM 226750）是一种罕见的疾病，属于癫痫性脑病综合征，呈常染色体隐性遗传。迄今为止，文献中仅报道了 31 个科赫舒特-通茨综合征家系。早发性癫痫、进行性全面发育迟缓以及釉质发育不全是该综合征的主要组成部分。（MIM 226750）和 （MIM 615905）的突变负责科赫舒特-通茨综合征。在这里，我们报告了来自 2 个家系的 3 名个体的临床和分子特征，他们均携带 中的相同纯合性新型有害变异，同时进行了长期随访和文献复习。尽管科赫舒特-通茨综合征的表型特征几乎一致，但偶尔会忽略牙齿发现和临床表现的不同程度的变异性，从而导致诊断困难。由于报告的患者数量有限，因此识别新的患者并阐明临床和分子发现将提高临床医生的认识，并能够建立基因型-表型相关性。
