Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings
American Journal of Medical Genetics, Part A, vol.188, no.4, pp.1226-1232, 2022 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 188 Issue: 4
- Publication Date: 2022
- Doi Number: 10.1002/ajmg.a.62602
- Journal Name: American Journal of Medical Genetics, Part A
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Page Numbers: pp.1226-1232
- Keywords: dyskeratosis congenita, Hoyeraal–Hreidarsson syndrome, telomerase, telomere biology disorders, TERT
- Trakya University Affiliated: Yes
Abstract
Short telomere syndromes constitute a heterogeneous group of clinical conditions characterized by short telomeres and impaired telomerase activity due to pathogenic variants in the essential telomerase components. Dyskeratosis congenita (DC) is a rare, multisystemic telomere biology disorder characterized by abnormal skin pigmentation, oral leukoplakia and nail dysplasia along with various somatic findings. Hoyeraal–Hreidarsson syndrome (HHS) is generally an autosomal recessively inherited subgroup showing growth retardation, microcephaly, cerebellar hypoplasia and severe immunodeficiency. We here report on a consanguineous family from Turkey, in which a missense variant in the reverse transcriptase domain of the TERT gene segregated with short telomere lengths and was associated with full-blown short telomere syndrome phenotype in the index; and heterogeneous adult-onset manifestations in heterozygous individuals.