Chudley-McCullough syndrome (CMS) is characterized by profound sensorineural hearing loss and brain anomalies. Variants in GPSM2 have recently been reported as a cause of CMS by Doherty et al. In this study we have performed exome sequencing of three CMS patients from two unrelated families from the same Dutch village. We identified one homozygous frameshift GPSM2 variants c.1473delG in all patients. We show that this variant arises from a shared, rare haplotype. Since the c.1473delG variant was found in Mennonite settlers, it likely originated in Europe. To support DNA diagnostics, we established an LOVD database for GPSM2 containing all variants thus far described.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.35808 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Pediatric Cochlear Implants in the Chudley-McCullough Syndrome: A Report of Two Cases.
Cureus
March 2024
Department of Pediatric Otolaryngology, Joe Dimaggio Children's Hospital, Hollywood, USA.
Article Synopsis
- Chudley-McCullough syndrome (CMS) is a rare genetic disorder that leads to hearing loss and brain abnormalities due to mutations in the GPSM2 gene.
- * CMS has been documented in about 30 cases worldwide, with some patients receiving cochlear implants to improve hearing.
- * This report discusses two unrelated children diagnosed with CMS who successfully underwent bilateral cochlear implantation, marking a notable occurrence in a hospital that serves a nearby community.
Modulation of Plasmatic Matrix Metalloprotease 9: A Promising New Tool for Understanding the Variable Clinical Responses of Patients with Cystic Fibrosis to Cystic Fibrosis Transmembrane Conductance Regulator Modulators.
Int J Mol Sci
August 2023
Department of Experimental Medicine (DIMES), University of Genova, 16126 Genova, Italy.
Background: The most recent modulator combination, elexacaftor/tezacaftor/ivacaftor (Trikafta), has been shown to improve clinical outcomes in most patients with cystic fibrosis (PwCF). Unfortunately, the clinical benefits are sometimes variable; thus, improving our knowledge of the possible causes of this variability can help reduce it.
Methods: Circulating mononuclear cells (CMCs) and plasma were collected from 16 PwCF (including those on Trikafta therapy) and 4 non-CF subjects.
Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.
Cereb Cortex
March 2023
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.
Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia.
View Article and Find Full Text PDFPromotion of row 1-specific tip complex condensates by Gpsm2-Gαi provides insights into row identity of the tallest stereocilia.
Sci Adv
June 2022
Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Ministry of Education, Shanghai Jiao Tong University, Shanghai 200240, China.
The mechanosensory stereocilia in hair cells are organized into rows of graded height, a property crucial for auditory perception. Gpsm2-Gαi-Whirlin-Myo15-Eps8 complex at tips of the tallest stereocilia is proposed to define hair bundle row identity, although the underlying mechanism remains elusive. Here, we find that Gpsm2 could undergo phase separation.
View Article and Find Full Text PDFCochlear implantation in a 16-month-old with Chudley-McCullough Syndrome.
Am J Otolaryngol
June 2022
The University of Mississippi Medical Center, Department of Otolaryngology, Head and Neck Surgery, 2500 North State St., Jackson, MS 39216, United States of America. Electronic address:
Objective: The purpose of this report is to describe a case of bilateral cochlear implantation (CI) in a pediatric patient with Chudley-McCullough Syndrome (CMS). By reviewing the literature, we hope to describe common clinical presentations to aid in early diagnosis and management of pediatric patients with CMS.
Methods: Case report with literature review.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!