Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Editorial
. 2024 May 31;15(6):715.
doi: 10.3390/genes15060715.

Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases

Miles D Thompson  1
Affiliations
Editorial

Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases

Miles D Thompson. Genes (Basel). .

Abstract

Genetic counseling and treatment options for rare developmental disabilities (DDs) have been revolutionized by the opportunities made possible by using massively parallel sequencing for diagnostic purposes [...].

PubMed Disclaimer

Conflict of interest statement

The author declares no conflict of interest.

Figures

Figure 1
Figure 1
Schematic of the diagnostic procedure for developmental disabilities. Adapted from Musante et al. [2]. Abbreviations: SNP: single nucleotide polymorphism; CNV: copy number variation; gnomAD: the Genome Aggregation Database; ExAC: Exome Aggregation Consortium; dbSNP: the Single Nucleotide Polymorphism Database; ACMG: the American College of Medical Genetics and Genomics; P: pathogenic; LP: likely pathogenic; VUS: variant of unknown significance.
See this image and copyright information in PMC

References

    1. Thompson M.D., Knaus A. Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders. Genes. 2024;15:619. doi: 10.3390/genes15050619. - DOI - PMC - PubMed
    1. Musante L., Costa P., Zanus C., Faletra F., Murru F.M., Bianco A.M., La Bianca M., Ragusa G., Athanasakis E., d’Adamo A.P., et al. The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge. Genes. 2022;13:500. doi: 10.3390/genes13030500. - DOI - PMC - PubMed
    1. Thompson M.D., Li X., Spencer-Manzon M., Andrade D.M., Murakami Y., Kinoshita T., Carpenter T.O. Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3) Genes. 2023;14:359. doi: 10.3390/genes14020359. - DOI - PMC - PubMed
    1. Khan A., Miao Z., Umair M., Ullah A., Alshabeeb M.A., Bilal M., Ahmad F., Rappold G.A., Ansar M., Carapito R. Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants. Genes. 2020;11:1021. doi: 10.3390/genes11091021. - DOI - PMC - PubMed
    1. German A., Jukic J., Laner A., Arnold P., Socher E., Mennecke A., Schmidt M.A., Winkler J., Abicht A., Regensburger M. Novel Homozygous FA2H Variant Causing the Full Spectrum of Fatty Acid Hydroxylase-Associated Neurodegeneration (SPG35) Genes. 2024;15:14. doi: 10.3390/genes15010014. - DOI - PMC - PubMed

Publication types

MeSH terms