17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review

17q12 deletion syndrome is a rare autosomal dominant inherited condition. It results from de novo mutation and can occur without a family history. Hepatocyte nuclear factor-1 beta (HNF1B) and LIM homeobox 1 (LXH1) genes are the most common genes to be deleted in this syndrome. It has unique clinical...

Descripción completa

Detalles Bibliográficos
Autores principales: Isa, Hasan M, Salman, Layla I, Almaa, Zainab A, Busehail, Mariam Y, Alherz, Zahra A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812734/
https://www.ncbi.nlm.nih.gov/pubmed/36620780
http://dx.doi.org/10.7759/cureus.32233
_version_ 1784863794692882432
author Isa, Hasan M
Salman, Layla I
Almaa, Zainab A
Busehail, Mariam Y
Alherz, Zahra A
author_facet Isa, Hasan M
Salman, Layla I
Almaa, Zainab A
Busehail, Mariam Y
Alherz, Zahra A
author_sort Isa, Hasan M
collection PubMed
description 17q12 deletion syndrome is a rare autosomal dominant inherited condition. It results from de novo mutation and can occur without a family history. Hepatocyte nuclear factor-1 beta (HNF1B) and LIM homeobox 1 (LXH1) genes are the most common genes to be deleted in this syndrome. It has unique clinical characteristics involving multiple systems in the body. The most common presentations are usually renal involvement and maturity-onset diabetes of the young type 5 (MODY5). Genetic study is the golden tool to diagnose patients with this syndrome. Our case presents the unique clinical features of 17q12 deletion syndrome along with a literature review.
format Online
Article
Text
id pubmed-9812734
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-98127342023-01-06 17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review Isa, Hasan M Salman, Layla I Almaa, Zainab A Busehail, Mariam Y Alherz, Zahra A Cureus Genetics 17q12 deletion syndrome is a rare autosomal dominant inherited condition. It results from de novo mutation and can occur without a family history. Hepatocyte nuclear factor-1 beta (HNF1B) and LIM homeobox 1 (LXH1) genes are the most common genes to be deleted in this syndrome. It has unique clinical characteristics involving multiple systems in the body. The most common presentations are usually renal involvement and maturity-onset diabetes of the young type 5 (MODY5). Genetic study is the golden tool to diagnose patients with this syndrome. Our case presents the unique clinical features of 17q12 deletion syndrome along with a literature review. Cureus 2022-12-05 /pmc/articles/PMC9812734/ /pubmed/36620780 http://dx.doi.org/10.7759/cureus.32233 Text en Copyright © 2022, Isa et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Isa, Hasan M
Salman, Layla I
Almaa, Zainab A
Busehail, Mariam Y
Alherz, Zahra A
17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review
title 17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review
title_full 17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review
title_fullStr 17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review
title_full_unstemmed 17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review
title_short 17q12 Microdeletion Syndrome as a Rare Cause of Elevated Liver Enzymes: Case Report and Literature Review
title_sort 17q12 microdeletion syndrome as a rare cause of elevated liver enzymes: case report and literature review
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812734/
https://www.ncbi.nlm.nih.gov/pubmed/36620780
http://dx.doi.org/10.7759/cureus.32233
work_keys_str_mv AT isahasanm 17q12microdeletionsyndromeasararecauseofelevatedliverenzymescasereportandliteraturereview
AT salmanlaylai 17q12microdeletionsyndromeasararecauseofelevatedliverenzymescasereportandliteraturereview
AT almaazainaba 17q12microdeletionsyndromeasararecauseofelevatedliverenzymescasereportandliteraturereview
AT busehailmariamy 17q12microdeletionsyndromeasararecauseofelevatedliverenzymescasereportandliteraturereview
AT alherzzahraa 17q12microdeletionsyndromeasararecauseofelevatedliverenzymescasereportandliteraturereview

Ejemplares similares