Publications by authors named "E M Huggins"
Article Synopsis
- Gaucher disease type 3 is a genetic disorder caused by a deficiency in the enzyme β-glucocerebrosidase, leading to a variety of health issues, particularly affecting the cardiac, neurological, and eye systems, with symptoms typically appearing before age 18.
- Type 3c, a specific form of this disease, is linked to a genetic variant and is unique for its association with heart problems, although few cases have been documented, making its full range of symptoms unclear.
- The case of a 20-year-old female with an unusual presentation of type 3c that includes eye inflammation and nerve damage—yet normal heart function—highlights the diverse manifestations of the disease and the need for better guidelines in evaluating
Variation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small insertions and deletions, or structural variants in non-coding genomic regions will be detrimental. Our approach using complementary RNA-seq and targeted long-read DNA sequencing can prioritize identification of non-coding variants that lead to disease via alteration of gene splicing or expression. We have identified a patient with primary ciliary dyskinesia with a pathogenic coding variant on one allele of the SPAG1 gene, while the second allele appears normal by whole exome sequencing despite an autosomal recessive inheritance pattern.
View Article and Find Full Text PDFWhole exome sequencing reveals a dual diagnosis of -related syndrome and glutaric aciduria III.
Mol Genet Metab Rep
September 2024
Background: Biochemical testing is a common first-tier approach in the setting of genetic evaluation of patients with unexplained developmental delay. However, results can be unclear, and a plan for second-tier analysis must be determined based on the patient's biochemical results and clinical presentation - in many cases, triggering a diagnostic odyssey.
Case Presentation: A male patient from the United States presenting with unexplained developmental delay, microcephaly, hypotonia, and feeding difficulties was referred for clinical genetic evaluation at age 8 months.
Article Synopsis
- Hypophosphatasia (HPP) is a genetic disorder that affects bone and tooth mineralization, caused by variations in the ALPL gene, which complicates diagnosis due to variants of uncertain significance (VUS).* -
- An open-access ALPL gene variant database has been created to help interpret the clinical significance of various ALPL mutations, providing details on their pathogenicity and associated genotypes and phenotypes.* -
- The database supports a project to reclassify VUS by allowing submissions from health professionals and uses a collaboration of experts to follow strict guidelines for a thorough assessment, improving understanding of HPP.*
Importance: Implementation of newborn screening (NBS) in the United States now detects infants with late-onset Pompe disease (LOPD), a lysosomal storage disease characterized by slowly progressive muscle weakness, and detailed clinical evaluation has identified early muscle weakness. Biomarkers may be uninformative; thus, non-invasive imaging is needed to assess early LOPD muscle changes. Muscle ultrasound (US) measuring echointensity (EI) is a non-invasive measure of muscle health.
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