Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing
Am J Med Genet A. 2023 Jan 18. doi: 10.1002/ajmg.a.63097. Online ahead of print. ABSTRACT Increasing use of unbiased genomic sequencing in critically ill infants can expand understanding of rare diseases such as Kabuki syndrome (KS). Infants diagnosed with KS through genome-wide sequencing performed during the initial hospitalization underwent retrospective review of medical records. Human […]
Reversibility and developmental neuropathology of linear nevus sebaceous syndrome caused by dysregulation of the RAS pathway
Cell Rep. 2023 Jan 14;42(1):112003. doi: 10.1016/j.celrep.2023.112003. Online ahead of print. ABSTRACT Linear nevus sebaceous syndrome (LNSS) is a neurocutaneous disorder caused by somatic gain-of-function mutations in KRAS or HRAS. LNSS brains have neurodevelopmental defects, including cerebral defects and epilepsy; however, its pathological mechanism and potentials for treatment are largely unclear. We show that introduction […]
Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies
J Pediatr. 2023 Jan 13:S0022-3476(23)00019-7. doi: 10.1016/j.jpeds.2022.12.036. Online ahead of print. ABSTRACT OBJECTIVES: To characterize bleeding phenotype in Noonan Syndrome, to test the utility of following national guidelines in detecting this phenotype, to evaluate thromboelastography (TEG) as a diagnostic tool and to evaluate the cohort for genotype-phenotype correlations. STUDY DESIGN: Participants with a clinical diagnosis […]
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Nat Genet. 2023 Jan 12. doi: 10.1038/s41588-022-01276-9. Online ahead of print. ABSTRACT Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy. Identifying the genetic causes of MCD has been a challenge, as mutations remain […]
Gene-Folic Acid Interactions and Risk of Conotruncal Heart Defects: Results from the National Birth Defects Prevention Study
Genes (Basel). 2023 Jan 9;14(1):180. doi: 10.3390/genes14010180. ABSTRACT Conotruncal heart defects (CTDs) are heart malformations that affect the cardiac outflow tract and typically cause significant morbidity and mortality. Evidence from epidemiological studies suggests that maternal folate intake is associated with a reduced risk of heart defects, including CTD. However, it is unclear if folate-related gene […]
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer
Children. 2023; 10(1):106. https://doi.org/10.3390/children10010106 ABSTRACT The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation. Michigan’s Project Baby Deer (PBD) is a multi-center collaborative effort that sought to break down barriers to […]
Control-independent mosaic single nucleotide variant detection with DeepMosaic
Nat Biotechnol. 2023 Jan 2. doi: 10.1038/s41587-022-01559-w. Online ahead of print. ABSTRACT Mosaic variants (MVs) reflect mutagenic processes during embryonic development and environmental exposure, accumulate with aging and underlie diseases such as cancer and autism. The detection of noncancer MVs has been computationally challenging due to the sparse representation of nonclonally expanded MVs. Here we […]
Rapid genome sequencing identifies novel variants in complement factor I
Cold Spring Harb Mol Case Stud. 2022 Dec 28;8(7):a006239. doi: 10.1101/mcs.a006239. Print 2022 Dec. ABSTRACT Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infancy. We report a previously healthy adolescent […]
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
Orphanet J Rare Dis. 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3. NO ABSTRACT PMID:36528660 DOI:10.1186/s13023-022-02592-3
Current studies and future directions for medulloblastoma: A review from the pacific pediatric neuro-oncology consortium (PNOC) disease working group
Neoplasia. 2022 Dec 11;35:100861. doi: 10.1016/j.neo.2022.100861. Online ahead of print. NO ABSTRACT PMID:36516489 DOI:10.1016/j.neo.2022.100861