Novel familial <em>KDF1</em> mutation detected in members of a three‑generation family with clinical manifestations of ectodermal dysplasia: A report of four cases

Keramida,Christina; Efstathiadou,Chrisoula; Siomou,Elisavet; Papageorgiou,Elena; Pavlidou,Efterpi; Sotiriou,Sotirios; Charitou,Antonia; Eleftheriades,Makarios; Nikas,Georgios; Anastasopoulos,Panagiotis; Manolakos,Emmanouil; Papoulidis,Ioannis

doi:10.3892/br.2025.1999

July-2025 Volume 23 Issue 1

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July-2025 Volume 23 Issue 1

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Article Open Access

Novel familial KDF1 mutation detected in members of a three‑generation family with clinical manifestations of ectodermal dysplasia: A report of four cases

Authors:
- Christina Keramida
- Chrisoula Efstathiadou
- Elisavet Siomou
- Elena Papageorgiou
- Efterpi Pavlidou
- Sotirios Sotiriou
- Antonia Charitou
- Makarios Eleftheriades
- Georgios Nikas
- Panagiotis Anastasopoulos
- Emmanouil Manolakos
- Ioannis Papoulidis
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Affiliations: Clinical Laboratory Genetics, Access to Genome P.C., 11527 Athens, Greece, Department of Speech and Language Therapy, University of Ioannina, 45110 Ioannina, Greece, Department of Embryology, Faculty of Medicine, School of Health Sciences, University of Thessaly, 41110 Larissa, Greece, Neonatal Department and Neonatal Intensive Care Unit, REA Maternity Hospital, 17564 Athens, Greece, Second Department of Obstetrics and Gynaecology, Aretaieio University Hospital, National and Kapodistrian University of Athens, 11528 Athens, Greece, Department of Maternal‑Fetal and Perinatal Medicine, IASO Maternity Hospital, 15123 Athens, Greece

Copyright: © Keramida et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
Article Number: 121
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Published online on: May 21, 2025

https://doi.org/10.3892/br.2025.1999
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Abstract

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 (KDF1) gene. The present study describes a novel KDF1 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 KDF1 mutation. Sanger sequencing of the KDF1 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 KDF1 mutation, contributing to the establishment of genotype‑phenotype associations and to the enhancement of genetic counseling practices.

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