Síndrome de Pitt-Rogers-Danks familiar: dos nuevos casos

Wolf-Hirschhorn Syndrome: distal microdeletion of chromosome 4 short arm Background: Wolf-Hirschhorn Syndrome is a genetic disease, in which the defect is a partial deletion involving the distal part of the short arm of chromosome 4. The clinical manifestations are craniofacial anomalies, delayed psychomotor development and neurological disorders. Objetive: Describe a clinical case of Wolf-Hirschhorn Syndrome, with specific description of craniofacial dysmorphological features. Case report: A female hypotonic infant with microcephaly and facial dysmorphism like "greek helmet": prominent glabela, ocular hypertelorism, epicanthal folds and marked broad-beaked nose, with pre and postnatal severe growth deficiency, mental retardation and seizures. Conclusions: The fluorescence in situ hybridization (FISH) karyotype revealed loss of genetic material at chromosome 4 short arm, with deletion in band 4p15 confirming the diagnosis. A case of probable de novo mutation with deletion of gene WHSC1 and other linked contiguous genes.

show abstract

Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients

Ebrahimi

Behnam

Behranvand-Jazi³

et al. 2017

J Res Med Sci

View full text Add to dashboard Cite

Background:Mutations in the acid alpha-glucosidase (GAA) gene usually lead to reduced GAA activity. In this study, we analyzed the mutations of GAA and GAA enzyme activity from one sibling suspected Pompe disease and their first-degree relatives.Materials and Methods:In this cross-sectional study, GAA enzyme activity assay was assessed using tandem mass spectrometry. Polymerase chain reaction and Sanger sequencing were performed for GAA analysis.Results:GAA enzyme activity was significantly decreased in patients compared to the normal range (P = 0.02). Two individuals showed ten alterations in the GAA sequence, in which one of them (c. 1650del G) has not been previously described in the literature. A single Guanine deletion (del-G) was detected at codon 551 in exon 12.Conclusion:According to the literature, the detected change is a novel mutation. We hypothesized that the discovered deletion in the GAA might lead to a reduced activity of the gene product.

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Síndrome de Pitt-Rogers-Danks familiar: dos nuevos casos

Cited by 3 publications

References 0 publications

Clinical features in adult patient with Wolf-Hirschhorn syndrome

Clinical features in adult patient with Wolf-Hirschhorn syndrome

Síndrome de Wolf-Hirschhorn: Microdeleción distal del brazo corto del cromosoma 4

Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients

Contact Info

Product

Resources

About