Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report

Rahman syndrome is a rare congenital anomaly syndrome recently described, which results from pathogenic variants in the HIST1H1E gene. The condition is characterized by variable somatic overgrowth, macrocephaly, distinctive facial features, intellectual disability, and behavioral problems. This repo...

Descripción completa

Detalles Bibliográficos
Autores principales: Indugula, Subba Rao, Ayala, Sofia Saenz, Vetrini, Francesco, Belonis, Alyce, Zhang, Wenying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822259/
https://www.ncbi.nlm.nih.gov/pubmed/35154720
http://dx.doi.org/10.1002/ccr3.5370
_version_ 1784646573993492480
author Indugula, Subba Rao
Ayala, Sofia Saenz
Vetrini, Francesco
Belonis, Alyce
Zhang, Wenying
author_facet Indugula, Subba Rao
Ayala, Sofia Saenz
Vetrini, Francesco
Belonis, Alyce
Zhang, Wenying
author_sort Indugula, Subba Rao
collection PubMed
description Rahman syndrome is a rare congenital anomaly syndrome recently described, which results from pathogenic variants in the HIST1H1E gene. The condition is characterized by variable somatic overgrowth, macrocephaly, distinctive facial features, intellectual disability, and behavioral problems. This report extends the genotype and clinical phenotype of HIST1H1E‐associated Rahman syndrome.
format Online
Article
Text
id pubmed-8822259
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-88222592022-02-11 Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report Indugula, Subba Rao Ayala, Sofia Saenz Vetrini, Francesco Belonis, Alyce Zhang, Wenying Clin Case Rep Case Reports Rahman syndrome is a rare congenital anomaly syndrome recently described, which results from pathogenic variants in the HIST1H1E gene. The condition is characterized by variable somatic overgrowth, macrocephaly, distinctive facial features, intellectual disability, and behavioral problems. This report extends the genotype and clinical phenotype of HIST1H1E‐associated Rahman syndrome. John Wiley and Sons Inc. 2022-02-07 /pmc/articles/PMC8822259/ /pubmed/35154720 http://dx.doi.org/10.1002/ccr3.5370 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Indugula, Subba Rao
Ayala, Sofia Saenz
Vetrini, Francesco
Belonis, Alyce
Zhang, Wenying
Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
title Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
title_full Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
title_fullStr Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
title_full_unstemmed Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
title_short Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
title_sort exome sequencing identified a novel hist1h1e heterozygous protein‐truncating variant in a 6‐month‐old male patient with rahman syndrome: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822259/
https://www.ncbi.nlm.nih.gov/pubmed/35154720
http://dx.doi.org/10.1002/ccr3.5370
work_keys_str_mv AT indugulasubbarao exomesequencingidentifiedanovelhist1h1eheterozygousproteintruncatingvariantina6montholdmalepatientwithrahmansyndromeacasereport
AT ayalasofiasaenz exomesequencingidentifiedanovelhist1h1eheterozygousproteintruncatingvariantina6montholdmalepatientwithrahmansyndromeacasereport
AT vetrinifrancesco exomesequencingidentifiedanovelhist1h1eheterozygousproteintruncatingvariantina6montholdmalepatientwithrahmansyndromeacasereport
AT belonisalyce exomesequencingidentifiedanovelhist1h1eheterozygousproteintruncatingvariantina6montholdmalepatientwithrahmansyndromeacasereport
AT zhangwenying exomesequencingidentifiedanovelhist1h1eheterozygousproteintruncatingvariantina6montholdmalepatientwithrahmansyndromeacasereport

Ejemplares similares