International students' perspectives on the genetic counseling application process.

Between 2018 and 2023, one percent of matched applicants to North American genetic counseling graduate programs (GCGPs) have been international applicants (IAs). The COVID-19 pandemic led to changes in the GCGP application processes in 2020, most notably the incorporation of virtual interviews and GRE waivers, which uniquely impacted IAs. Twelve international genetic counseling (GC) students who matriculated into a U.

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.

Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by rhizomelic short-limbed skeletal dysplasia. The primary clinical and radiographic features include disproportionate dwarfism, joint laxity and hyperextensibility, exaggerated lumbar lordosis, and late ossification of the epiphyses. Identification of disease-causing variants in heterozygous state in COMP establishes the molecular diagnosis of PSACH.

Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.

Medical genomics research performed in diverse population facilitates a better understanding of the genetic basis of developmental disorders, with regional implications for community genetics. Autosomal recessive mitochondrial complex I deficiency (MCID) accounts for a constellation of clinical features, including encephalopathies, myopathies, and Leigh Syndrome. Using whole-exome sequencing, we identified biallelic missense variants in NDUFV1 that encodes the 51-kD subunit of complex I (NADH dehydrogenase) NDUFV1.

A novel sequence variant in SFRP4 causing Pyle disease.

Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed.