Publications by authors named "P Dane Witmer"
Article Synopsis
- Hereditary spastic paraplegias are a group of disorders marked by lower limb spasticity, categorized as either isolated or symptomatic, with additional neurological complications.
- The study focused on identifying genetic causes in three consanguineous families from Punjab, using blood samples and exome sequencing to find rare homozygous variants linked to the disorders.
- Key findings included a deletion in SPG11 related to complex movement disorders and specific mutations in DDHD2 and AP4B1, highlighting the genetic diversity and complexity of hereditary spastic paraplegia conditions.
Article Synopsis
- Bladder exstrophy epispadias complex (BEEC) is a rare birth defect with unclear causes, though genetics may play a role, and newer sequencing technologies help pinpoint genetic factors.
- The study aimed to find rare genetic variants linked to bladder regeneration in 12 patients with BEEC, classifying their bladder function as either sufficient or insufficient.
- Out of 44 genes studied, the researchers discovered rare genetic variants in two genes among sufficient cases and seven variants across five genes in unsuspected cases, highlighting the potential genetic contributors to the condition.
The dilemma of how to categorize and classify diseases has been debated for centuries. The field of medical genetics has historically approached nosology based on clinical phenotypes observed in patients and families. Advances in genomic sequencing and understanding of genetic contributions to disease often provoke a need to reassess these classifications.
View Article and Find Full Text PDFHereditary deafness is clinically and genetically heterogeneous. We investigated deafness segregating as a recessive trait in two families. Audiological examinations revealed an asymmetric mild to profound hearing loss with childhood or adolescent onset.
View Article and Find Full Text PDFArticle Synopsis
- Dubowitz syndrome (DubS) is a condition that affects how people look and grow, with over 200 cases reported.
- Scientists studied the DNA of 31 people with DubS and found genetic changes in 13 of those cases, which helped identify potential causes.
- Many of the genes linked to DubS are newer discoveries, and the genetic differences in these cases show there's not just one cause for the syndrome.