We used exome sequencing to study a non-consanguineous family with two children who had anterior segment dysgenesis, sclerocornea, microphthalmia, hypotonia and developmental delays. Sanger sequencing verified two Peroxidasin (PXDN) mutations in both sibs--a maternally inherited, nonsense mutation, c.1021C>T predicting p.(Arg341*), and a paternally inherited, 23-basepair deletion causing a frameshift and premature protein truncation, c.2375_2397del23, predicting p.(Leu792Hisfs*67). We re-examined exome data from 20 other patients with structural eye defects and identified two additional PXDN mutations in a sporadic male with bilateral microphthalmia, cataracts and anterior segment dysgenesis--a maternally inherited, frameshift mutation, c.1192delT, predicting p.(Tyr398Thrfs*40) and a paternally inherited, missense substitution that was predicted to be deleterious, c.947 A>C, predicting p.(Gln316Pro). Mutations in PXDN were previously reported in three families with congenital cataracts, microcornea, sclerocornea and developmental glaucoma. The gene is expressed in corneal epithelium and is secreted into the extracellular matrix. Defective peroxidasin has been shown to impair sulfilimine bond formation in collagen IV, a constituent of the basement membrane, implying that the eye defects result because of loss of basement membrane integrity in the developing eye. Our finding of a broader phenotype than previously appreciated for PXDN mutations is typical for exome-sequencing studies, which have proven to be highly effective for mutation detection in patients with atypical presentations. We conclude that PXDN sequencing should be considered in microphthalmia with anterior segment dysgenesis.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326713 | PMC |
http://dx.doi.org/10.1038/ejhg.2014.119 | DOI Listing |
Korean J Ophthalmol
December 2024
Department of Ophthalmology, Chung-Ang University Hospital, Seoul, Korea.
Purpose: This study evaluated the objective changes in the contralateral eye after unilateral cataract surgery.
Methods: The study was designed as retrospective observational study. It included 44 patients who underwent unilateral cataract surgery.
J Neurosurg Case Lessons
December 2024
Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan.
Background: Postoperative subdural hematoma (SDH) typically presents with headache, impaired consciousness, hemiplegia, gait disturbance, and aphasia but can also present with visual impairment.
Observations: A 52-year-old woman diagnosed with Chiari malformation type I and syringomyelia underwent foramen magnum decompression. Cerebrospinal fluid was lost due to arachnoid injury during the procedure.
J Neuroendovasc Ther
October 2024
Department of Neurology, Shanghai Pudong New Area Gongli Hospital, Shanghai, China.
Objective: Giant aneurysms of the cavernous segment of the internal carotid artery presenting as acute ischemic stroke (AIS) are rare and often misdiagnosed. Limited treatment experience further complicates management.
Case Presentation: A 70-year-old female presented with acute right middle cerebral artery (MCA) occlusion due to a dislodged thrombus from a giant internal carotid aneurysm.
Int J Cardiol Congenit Heart Dis
December 2024
Paediatric Diabetes and Endocrine Service, Starship Child Health, Te Toka Tumai Auckland Te Whatu Ora, Auckland, New Zealand.
Objective: Short stature, central hypothyroidism and infertility are common in those with a Fontan circulation. Given that the Fontan circulation often results in hepatic portal venous congestion, we hypothesize that the hypothalamic-pituitary portal circulation is also affected, contributing to subsequent hypothalamic-pituitary axis dysfunction.
Methods: MRI data from the Australian and New Zealand Fontan Registry (86 cases) was compared to 86 age- and sex-matched normal published controls.
Cureus
November 2024
Department of Colorectal Surgery, The Royal Wolverhampton NHS Trust, Wolverhampton, GBR.
Background To evaluate the accuracy and optimal C-reactive protein (CRP) level for detecting anastomotic leak (AL) in patients following elective colorectal resection. Methods A retrospective data collection of patients undergoing elective colorectal resection with primary anastomosis at a single institution was performed. Data were collected between June 2021 and November 2022.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!