Keramida Christina, Efstathiadou Chrisoula, Siomou Elisavet, Papageorgiou Elena, Pavlidou Efterpi, Sotiriou Sotirios, Charitou Antonia, Eleftheriades Makarios, Nikas Georgios, Anastasopoulos Panagiotis, Manolakos Emmanouil, Papoulidis Ioannis
Clinical Laboratory Genetics, Access to Genome P.C., 11527 Athens, Greece.
Department of Speech and Language Therapy, University of Ioannina, 45110 Ioannina, Greece.
Biomed Rep. 2025 May 21;23(1):121. doi: 10.3892/br.2025.1999. eCollection 2025 Jul.
Ectodermal dysplasia (ED) syndromes are a heterogeneous group of disorders characterized by defects in two or more ectodermal structures. At least one of the structures must involve the hair, teeth, nails, or sweat glands. ED-12 is a rare subtype of ED that is linked to mutations in the keratinocyte differentiation factor 1 () gene. The present study describes a novel mutation, c.812A>C (p.Lys271Thr), identified in four family members across three generations. Following the birth of a child with natal teeth, whole exome sequencing was performed and revealed the presence of the novel mutation. Sanger sequencing of the gene in other family members confirmed the presence of the same mutation in three other family members. Clinical manifestations of the carrier family members included natal teeth at birth, hypodontia, atopic dermatitis and dystrophic toenails. To the best of our knowledge, this is the third documented case of natal teeth associated with a mutation, contributing to the establishment of genotype-phenotype associations and to the enhancement of genetic counseling practices.
外胚层发育不良（ED）综合征是一组异质性疾病，其特征是两个或更多外胚层结构存在缺陷。这些结构中至少有一个必须涉及毛发、牙齿、指甲或汗腺。ED - 12是ED的一种罕见亚型，与角质形成细胞分化因子1（）基因的突变有关。本研究描述了一个新的突变，即c.812A>C（p.Lys271Thr），在三代人的四名家庭成员中被发现。在一名出生时就有 natal teeth（ natal teeth：出生时就有牙齿，可译为“诞生牙”）的儿童出生后，进行了全外显子组测序，结果显示存在该新突变。对其他家庭成员的该基因进行Sanger测序，证实另外三名家庭成员也存在相同突变。携带该突变的家庭成员的临床表现包括出生时就有诞生牙、牙齿发育不全、特应性皮炎和营养不良性趾甲。据我们所知，这是第三例记录在案的与该基因突变相关的诞生牙病例，有助于建立基因型 - 表型关联并加强遗传咨询实践。
