The Undiagnosed Diseases Network at the ASHG 2021 Virtual Meeting
The Undiagnosed Diseases Network (UDN) is participating in the American Society of Human Genetics (ASHG) Virtual Meeting from October 18-22, 2021. Click here for a printable list of UDN talks and posters.
PLATFORM PRESENTATIONS
1153 Bi-allelic variants in the autophagy gene ATG4D are associated with a pediatric neurological disorder characterized by hypotonia, joint laxity, and delayed speech and motor development (M. Morimoto)
1156 – Statistical framework uncovers deep intronic splice gain variants implicated in undiagnosed cases (S. Kobren)
1187 – Large scale Cas9 mediated depletion of highly abundant transcripts to expand the interpretable genome and improve the diagnostic yield of clinical RNA Seq (A. Y. Huang)
POSTER PRESENTATIONS
2186 – Bi-allelic variants in neuronal cell adhesion molecule (NRCAM) lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity (H. Baris Feldman)
2550 – De novo variants in TCF4 with a suspected gain-of-function mechanism are responsible for a new malformative disease without intellectual disability (E. Colin)
2630 – Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome (M. A. Cousin)
2891 – Prioritizing Research Variants in the NIH Undiagnosed Diseases Program (D. R. Adams)
3002 – Characterizing repeat expansion variation in the Undiagnosed Disease Network cohort (S. Fazal)
3037 – Impaired SNAPC4 function leads to global reduction of canonical splicing events and is associated with a disorder characterized by progressive spasticity, developmental delay, and speech dysarthria (F. G. Frost)
3104 – X-linked recessive mutations in PDZD4 are likely associated with neurodevelopment delay and autism spectrum disorder (M. Sandler)
3410 – De novo damaging variants in the microRNA processor DROSHA are associated with a severe progressive neurological disorder (S. Barish)
3411 – De novo variant in MRTF-B is associated with intellectual disability, minor dysmorphic features, expressive language delay, impulse control issues, and fine motor delay (J. C. Andrews)
3417 – Biallelic NAV2 truncating variants cause a neurodevelopmental disorder with cerebellar cortical dysplasia (J. A. Rosenfeld)
3426 – Loss of function variants in PUS7 dysregulate protein synthesis and are associated with neurodevelopmental delay, microcephaly, and hyperuricemia (K. Garcia)
3428 – Novel PRUNE1 c.933G>A (p.Thr311=) synonymous splice variant induces exon 7 skipping and leads to an atypical presentation of NMIHBA syndrome: Case report and review of the literature (C. Magyar)
3435 – A heterozygous gain-of-function variant in KIF5B causes osteogenesis imperfecta by disrupting the Golgi-primary cilia axis (M. Washington)
3456 – Precision medicine models for undiagnosed and rare disease (L. C. Burrage)
3482 – Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants (S. Mukherjee)
3502 – Knowledge based artificial intelligence for variant pathogenicity prediction for Mendelian disorders (D. Mao)
