Sort   by:  
 Page size 
UnknownContinuing a search for a diagnosis: the impact of adolescence and family dynamics.
The "diagnostic odyssey" describes the process those with undiagnosed conditions undergo to identify a diagnosis. Throughout this process, families of children with undiagnosed conditions have multiple opportunities to decide whether to continue or stop their search for a diagnosis and accept the la...
S-EPMC9830697 | biostudies-literature
UnknownFamily genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult-onset, dominant conditions as well as more common genetic conditions such as familial hypercholest...
S-EPMC8207526 | biostudies-literature
UnknownDYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

Background

DYRK1A-Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de...
S-EPMC7767569 | biostudies-literature
UnknownProgressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Background

Complex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including SDHA (OMIM 600857), are associated with a wide range of sympt...
S-EPMC8222855 | biostudies-literature
UnknownMacrocephaly and developmental delay caused by missense variants in RAB5C.
Rab GTPases are important regulators of intracellular vesicular trafficking. RAB5C is a member of the Rab GTPase family that plays an important role in the endocytic pathway, membrane protein recycling and signaling. Here we report on 12 individuals with nine different heterozygous de novo variants ...
S-EPMC10586195 | biostudies-literature
UnknownClinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.
The Genome Empowerment Scale (GEmS), developed as a research tool, assesses perspectives of parents of children with undiagnosed disorders about to undergo exome or genome sequencing related to the process of empowerment. We defined genomic healthcare empowerment as follows: perceived ability to und...
S-EPMC8664895 | biostudies-literature
UnknownSPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia.
Sphingolipids are a diverse family of lipids with critical structural and signalling functions in the mammalian nervous system, where they are abundant in myelin membranes. Serine palmitoyltransferase, the enzyme that catalyses the rate-limiting reaction of sphingolipid synthesis, is composed of mul...
S-EPMC10319774 | biostudies-literature
UnknownClinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

Purpose

The NIH Undiagnosed Diseases Network (UDN) evaluates participants with disorders that have defied diagnosis, applying personalized clinical and genomic evaluations and innovative research. The clinical sites of the UDN are essential to advancing the UDN mission; this study assesses t...
S-EPMC7867619 | biostudies-literature
UnknownDetection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.

Background

Currently available structural variant (SV) detection methods do not span the complete spectrum of disease-causing SVs. Optical genome mapping (OGM), an emerging technology with the potential to resolve diagnostic dilemmas, was performed to investigate clinically-relevant SVs in a...
S-EPMC8372083 | biostudies-literature
UnknownHeterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.

Purpose

Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. ...
S-EPMC8487929 | biostudies-literature
Sort   by:  
 Page size