Hoyeraal–Hreidarsson syndrome associated with a new homozygous splice variant in <i>PARN</i>-Reference-Cited by-同舟云学术

Hoyeraal–Hreidarsson syndrome associated with a new homozygous splice variant in PARN

Published:2024-05-20 Issue: Volume: Page:
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Cheng Hui-Ching¹,Nanda Arti²^ORCID,Lin Chun-Yu¹³,McGrath John A¹⁴^ORCID,Hsu Chao-Kai¹⁵⁶^ORCID

Affiliation:

1. Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University , Tainan , Taiwan

2. As’ad Al-Hamad Dermatology Center , Kuwait

3. School of Medicine, College of Medicine, National Cheng Kung University , Tainan , Taiwan

4. St John’s Institute of Dermatology, School of Basic and Medical Biosciences , King’s College London, London , UK

5. International Research Center of Wound Repair and Regeneration (iWRR), National Cheng Kung University , Tainan , Taiwan

6. Institute of Clinical Medicine, College of Medicine, National Cheng Kung University , Tainan , Taiwan

Abstract

We report on a consanguineous Egyptian family focusing on a 15-year-old girl exhibiting features of Hoyeraal–Hreidarsson syndrome (HHS). Genetic analysis revealed a novel new homozygous acceptor splice-site variant in the PARN gene, causing significant telomere shortening. The report expands the genetic landscape of telomere biology disorders.

Funder

National Cheng Kung University Hospital

Ministry of Health and Welfare

Publisher

Oxford University Press (OUP)

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llae211/58657681/llae211.pdf

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5. Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening;Stuart;Nat Genet,2015