Commentary
Clin Chem. 2020 Jan 1;66(1):51-52. doi: 10.1093/clinchem.2019.310037. Comment on Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing. Lopes JL, Rasmussen KJ, Mehta N, Boczek NJ, Hasadsri L.Clin Chem. 2020 Jan 1;66(1):48-51. doi: 10.1093/clinchem.2019.304451.PMID: 32609848 PMID:32609850 | DOI:10.1093/clinchem.2019.310037
Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis
Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):456-468. doi: 10.1002/ajmg.c.31803. Epub 2020 Jun 17. ABSTRACT Identifying the factors related to adaptive functioning will improve the information available to families and providers of females with Trisomy X. Cognitive and behavioral features were assessed in 50 females ages 12.2 ± 3.6 years using the Behavior […]
Failure to thrive – an overlooked manifestation of KMT2B-related dystonia: a case presentation
BMC Neurol. 2020 Jun 16;20(1):246. doi: 10.1186/s12883-020-01798-x. ABSTRACT BACKGROUND: KMT2B-related dystonia is a recently described form of childhood onset dystonia that may improve with deep brain stimulation. Prior reports have focused on neurologic features including prominent bulbar involvement without detailing general health consequences that may result from orolingual dysfunction. We describe a family with novel […]
Genetic testing strategies in the newborn
J Perinatol. 2020 Jul;40(7):1007-1016. doi: 10.1038/s41372-020-0697-y. Epub 2020 May 29. ABSTRACT Genetic disorders presenting in the neonatal period can have a significant impact on morbidity and mortality. Early diagnosis can facilitate timely prognostic counseling to families and possibility of precision care, which could improve outcome. As availability of diagnostic testing expands, the required knowledge base […]
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
Genome Med. 2020 May 27;12(1):48. doi: 10.1186/s13073-020-00748-z. ABSTRACT Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and support the development of standards for […]
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. ABSTRACT BACKGROUND: Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH4 biosynthesis or recycling. Hyperphenylalaninemia (HPA) is the first diagnostic hallmark for most BH4 deficiencies, apart from […]
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
J Med Genet. 2021 Apr;58(4):237-246. doi: 10.1136/jmedgenet-2020-106849. Epub 2020 May 21. ABSTRACT BACKGROUND: Intellectual disability syndromes (IDSs) with or without developmental delays affect up to 3% of the world population. We sought to clinically and genetically characterise a novel IDS segregating in five unrelated consanguineous families. METHODS: Clinical analyses were performed for eight patients with […]
Closing in on Mechanisms of Open Neural Tube Defects
Trends Neurosci. 2020 Jul;43(7):519-532. doi: 10.1016/j.tins.2020.04.009. Epub 2020 May 15. ABSTRACT Neural tube defects (NTDs) represent a failure of the neural plate to complete the developmental transition to a neural tube. NTDs are the most common birth anomaly of the CNS. Following mandatory folic acid fortification of dietary grains, a dramatic reduction in the incidence […]
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families
BMC Med Genomics. 2020 May 13;13(1):68. doi: 10.1186/s12920-020-0714-1. ABSTRACT BACKGROUND: The causes for thousands of individually rare recessive diseases have been discovered since the adoption of next generation sequencing (NGS). Following the molecular diagnosis in older children in a family, parents could use this information to opt for fetal genotyping in subsequent pregnancies, which could […]
Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges
Int J Neonatal Screen. 2020 Jun;6(2):32. doi: 10.3390/ijns6020032. Epub 2020 Apr 5. ABSTRACT Pompe disease (PD) is screened by a two tier newborn screening (NBS) algorithm, the first tier of which is an enzymatic assay performed on newborn dried blood spots (DBS). As first tier enzymatic screening tests have false positive results, an immediate second […]