eprintid: 1542948
rev_number: 23
eprint_status: archive
userid: 608
dir: disk0/01/54/29/48
datestamp: 2017-04-11 13:07:26
lastmod: 2021-09-23 22:53:50
status_changed: 2017-04-11 13:07:26
type: article
metadata_visibility: show
creators_name: Lin, FJ
creators_name: Lu, W
creators_name: Gale, D
creators_name: Yao, Y
creators_name: Zou, R
creators_name: Bian, F
creators_name: Jiang, GR
title: Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report
ispublished: pub
divisions: UCL
divisions: B02
divisions: C10
divisions: D17
divisions: G93
keywords: Townes-Brocks syndrome, multicystic kidneys, renal
failure, SALL1, novel mutation
note: © Lin et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
abstract: Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early in life. The present study reports the case of a male patient presenting with multiple bilateral cortical kidney cysts at the age of 4 years, at which time the kidneys were of normal size and function. A clinical diagnosis of autosomal recessive polycystic kidney disease was made initially as the patient's parents are clinically healthy. However, the consideration of extra‑renal involvements (imperforate anus at birth, preaxial polydactyly and dysplastic right ear) following the progression of the patient to ESRF at the age of 16 years, led to the diagnosis of TBS. This prompted sequencing of the SALL1 gene, which identified a novel heterozygous nonsense mutation in the mutational ‘hotspot’ of exon 2 (c.874C>T, p.Q292X), and this mutation was not detected in healthy controls. The current case highlights that TBS may present with normal sized, cystic kidneys in childhood, while recognition of extra‑renal features of cystic kidney diseases, such as TBS, and genetic testing may facilitate the correct diagnosis and transmission mode. Reaching a correct diagnosis of as TBS is important since this condition has a 50% rate of transmission to offspring and can progress to ESRF early in life.
date: 2016-04
date_type: published
official_url: http://dx.doi.org/10.3892/etm.2016.3035
oa_status: green
full_text_type: pub
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 1210937
doi: 10.3892/etm.2016.3035
lyricists_name: Gale, Daniel
lyricists_id: DGALE18
actors_name: Bracey, Alan
actors_id: ABBRA90
actors_role: owner
full_text_status: public
publication: Experimental and Therapeutic Medicine
volume: 11
number: 4
pagerange: 1249-1252
issn: 1792-1015
citation:        Lin, FJ;    Lu, W;    Gale, D;    Yao, Y;    Zou, R;    Bian, F;    Jiang, GR;      (2016)    Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.                   Experimental and Therapeutic Medicine , 11  (4)   pp. 1249-1252.    10.3892/etm.2016.3035 <https://doi.org/10.3892/etm.2016.3035>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/1542948/1/etm_11_4_1249_PDF.pdf