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Pediatric Reports
Volume 9
Issue 3
10.4081/pr.2017.7301
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Case Report

Clinical Heterogeneity in a Family with DKC1 Mutation, Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome in First Cousins

by
Cristina Olivieri
1,
Anna Mondino
1,
Matteo Chinello
1,
Alessandra Risso
1,
Enrico Finale
1,*,
Marina Lanciotti
1 and
Andrea Guala
4
1
Department of Public and Pediatric Health Sciences, University of Turin, Italy
2
Department of Pediatric Hematology and Oncology, Policlinico G.B. Rossi, Verona, Italy
3
Departement of Hematology, City of Health and Science, University of Turin, Italy
4
Unit of Pediatrics, Castelli Hospital, Verbania, Italy
5
Department of Pediatric Hematology Oncology and Bone Marrow Transplant, G. Gaslini Children’s Hospital, Genoa, Italy
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2017, 9(3), 7301; https://doi.org/10.4081/pr.2017.7301
Submission received: 4 July 2017 / Revised: 7 August 2017 / Accepted: 7 August 2017 / Published: 6 October 2017

Abstract

Dyskeratosis congenita (DC) is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia), pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS), also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in DKC1. Our family confirms again that one mutation can be associated with different phenotypes and different hematological manifestations. It’s possible to speculate that there are likely to be patients who do not clinically fit neatly into either classical DC or HHS, but whose clinical features are due to mutations in DKC1 or in genes responsible for autosomal DC/HHS.
Keywords: Dyskeratosis Congenital; Hoyeraal-Hreidarsson Syndrome; gene mutation; phenotypic variability Dyskeratosis Congenital; Hoyeraal-Hreidarsson Syndrome; gene mutation; phenotypic variability

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MDPI and ACS Style

Olivieri, C.; Mondino, A.; Chinello, M.; Risso, A.; Finale, E.; Lanciotti, M.; Guala, A. Clinical Heterogeneity in a Family with DKC1 Mutation, Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome in First Cousins. Pediatr. Rep. 2017, 9, 7301. https://doi.org/10.4081/pr.2017.7301

AMA Style

Olivieri C, Mondino A, Chinello M, Risso A, Finale E, Lanciotti M, Guala A. Clinical Heterogeneity in a Family with DKC1 Mutation, Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome in First Cousins. Pediatric Reports. 2017; 9(3):7301. https://doi.org/10.4081/pr.2017.7301

Chicago/Turabian Style

Olivieri, Cristina, Anna Mondino, Matteo Chinello, Alessandra Risso, Enrico Finale, Marina Lanciotti, and Andrea Guala. 2017. "Clinical Heterogeneity in a Family with DKC1 Mutation, Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome in First Cousins" Pediatric Reports 9, no. 3: 7301. https://doi.org/10.4081/pr.2017.7301

APA Style

Olivieri, C., Mondino, A., Chinello, M., Risso, A., Finale, E., Lanciotti, M., & Guala, A. (2017). Clinical Heterogeneity in a Family with DKC1 Mutation, Dyskeratosis Congenita and Hoyeraal-Hreidarsson Syndrome in First Cousins. Pediatric Reports, 9(3), 7301. https://doi.org/10.4081/pr.2017.7301

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