Significant phenotypic variability of Muenke syndrome in identical twins.

Am J Med Genet A

Medical Genetics and Neurodevelopmental Center, St. Vincent Children's Hospital, Indianapolis, Indiana, USA.

Published: June 2009

Muenke syndrome (MS), also known as Muenke nonsyndromic coronal craniosynostosis, is an autosomal dominant condition which can be distinguished from the more common forms of acrocephalosyndactyly but presents a significant variable phenotype. We report on a set of identical twins with a de novo C749G mutation in the FGFR3 gene codon 250 after a pregnancy complicated by prenatal exposure to Nortriptyline. These patients illustrate the variable expressivity of MS in association with an identical gene mutation.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32841DOI Listing

Publication Analysis

Top Keywords

muenke syndrome
8
identical twins
8
phenotypic variability
4
variability muenke
4
syndrome identical
4
twins muenke
4
syndrome muenke
4
muenke nonsyndromic
4
nonsyndromic coronal
4
coronal craniosynostosis
4

Similar Publications

Article Synopsis
  • Syndromic hearing loss (SHL) involves diverse genetic causes, with over 400 types identified, primarily following an autosomal dominant inheritance pattern.
  • A study analyzed 14 patients (ages 5-78 months) with various syndromes associated with SHL, discovering ten new genetic variants and confirming cases of well-known syndromes like Waardenburg and CHARGE.
  • Results suggest that combining neonatal hearing screenings with whole exome sequencing can effectively diagnose SHL early, highlighting the need for thorough monitoring of patients due to the complexity and variability of SHL symptoms.
View Article and Find Full Text PDF

Craniosynostosis constitutes one of the most common congenital cranial malformations, affecting approximately 6/10,0000 live births. A genetic etiology has long been known for several forms of syndromic craniosynostosis, including pathogenic variants in TWIST1 and FGFR3 in children with Saethre-Chotzen and Muenke syndrome. Over the last decade, reports of genetic aberrations in TCF12 in children with craniosynostosis have emerged, in particular in cases with premature closure of the coronal suture(s).

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the spheno-occipital synchondrosis (SOS) fusion in patients with Muenke syndrome, a genetic condition associated with less severe facial deformities compared to other syndromes like Apert and Crouzon.
  • Researchers evaluated CT scans from 28 Muenke syndrome patients and compared them to matched controls, focusing on SOS fusion status and facial measurements.
  • The findings suggest that while Muenke syndrome patients exhibit minor retropositioning of the infraorbital rim, their SOS fusion patterns are similar to those of controls, indicating that any fusion timing differences might show up more at the infraorbital rim rather than the maxilla.
View Article and Find Full Text PDF
Article Synopsis
  • Ventricular septal defects (VSDs) are common congenital heart diseases, making up about 40% of cardiac malformations and can occur alone or with other defects.
  • The genetic causes of VSD are complex, involving chromosomal abnormalities and gene mutations, including known syndromes like DiGeorge and Holt-Oram.
  • Recent advancements like comparative genomic hybridization have revealed numerous copy number variations linked to VSD, highlighting the genetic diversity in affected patients.
View Article and Find Full Text PDF

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!