Related Experiment Video
Updated: May 19, 2026
03:45
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
IMPAD1 mutations in two Catel-Manzke like patients
Mathilde Nizon1, Yasemin Alanay, Beyhan Tuysuz
1Département de génétique, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.
American Journal of Medical Genetics. Part A
|August 14, 2012
Summary
Catel-Manzke syndrome, a rare genetic disorder, may be linked to IMPAD1 gene mutations. Screening IMPAD1 is recommended for patients with Catel-Manzke syndrome and additional features, aiding in diagnosis and understanding the molecular basis.
Area of Science:
- Genetics
- Molecular Biology
- Pediatric Dysmorphology
Background:
- Catel-Manzke syndrome presents with hyperphalangism, deviated index fingers, and micrognathia, sometimes with cleft palate.
- Atypical cases exhibit additional malformations, and the molecular basis remains largely unknown.
- Overlapping features exist with Desbuquois dysplasia type 1 (CANT1 mutations) and gPAPP chondrodysplasia (IMPAD1 mutations).
Purpose of the Study:
- To investigate the molecular basis of Catel-Manzke syndrome by screening CANT1 and IMPAD1 genes.
- To determine if IMPAD1 mutations are associated with Catel-Manzke-like phenotypes.
Main Methods:
- Genetic screening of CANT1 and IMPAD1 genes in patients diagnosed with Catel-Manzke syndrome and Catel-Manzke-like features.
- Phenotypic characterization of patients with identified mutations.
Main Results:
- Two homozygous loss-of-function IMPAD1 mutations (p.Arg187X and p.Ser108ArgfsX48) were identified in two Catel-Manzke-like patients.
- These patients presented with severe growth retardation, abnormal extremities, cleft palate, micrognathia, and knee hyperlaxity.
- Radiographic findings included accessory bones, abnormally shaped phalanges, and carpal synostosis.
Conclusions:
- IMPAD1 mutations are associated with a Catel-Manzke-like phenotype.
- Genetic screening of IMPAD1 is recommended for patients presenting with Catel-Manzke syndrome and additional malformations.
- This study contributes to understanding the genetic underpinnings of Catel-Manzke syndrome and related disorders.
More Related Videos
Related Concept Videos
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:58X-Inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.