Development and Adaptive Function in Individuals With -Related Disorders.

Background And Objectives: Developmental impairment is common in individuals with -related disorders, although descriptions are limited. We aimed to determine trajectories and outcomes of development and adaptive function.

Methods: This was a mixed retrospective cross-sectional study of individuals from an international Natural History Study, who had neurologic/neurodevelopmental disorders due to an variant.

Genotype-phenotype correlation and treatment effects in young patients with -associated disorders.

Background: Patients carrying pathogenic variants in often present with early-onset central hypotonia and global developmental delay, with or without epilepsy. As the disorder progresses, a complex hypertonic and hyperkinetic movement disorder is a common phenotype. A genotype-phenotype correlation has not yet been described and there are no evidence-based therapeutic recommendations.

Genotype-phenotype correlations in ocular manifestations of Marinesco-Sjögren syndrome: Case report and literature review.

Purpose: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients' ocular manifestations to provide a basis for future clinical trials and improve MSS patients' ophthalmologic care.

Case Description: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy.

PNPT1 mutations may cause Aicardi-Goutières-Syndrome.

Background: Aicardi-Goutières syndrome (AGS) is a clinically and genetically heterogenous autoinflammatory disorder caused by constitutive activation of the type I interferon axis. It has been associated with the genes TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1. The clinical diagnosis of AGS is usually made in the context of early-onset encephalopathy in combination with basal ganglia calcification or white matter abnormalities on cranial MRI and laboratory prove of interferon I activation.

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.

Genetic diseases are a major cause of neonatal morbidity and mortality. The clinical differential diagnosis in severely ill neonates, especially in premature infants, is challenging. Next generation sequencing (NGS) diagnostics is a valuable tool, but the turnaround time is often too long to provide a diagnosis in the time needed for clinical guidance in newborn intensive care units (NICU).

Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy.

Mutations in GABA-receptor subunit genes are associated with a heterogeneous spectrum of epilepsies. Patients with epilepsy caused by mutations in a specific GABA-receptor () occasionally present with orofacial dysmorphism (e.g.

A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation.

Introduction: Recently recessive mutations in sphingosine-1-phosphate lyase (SGPL1) have been published as a cause of syndromic congenital nephrotic syndrome with adrenal insufficiency. We have identified a case with fetal hydrops and brain malformations due to a mutation in SGPL1.

Case Report: We report a patient presenting with severe fetal hydrops, congenital nephrotic syndrome and adrenal calcifications.

Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.

Background And Objectives: Treatment of congenital nephrotic syndrome (CNS) and steroid-resistant nephrotic syndrome (SRNS) is demanding, and renal prognosis is poor. Numerous causative gene mutations have been identified in SRNS that affect the renal podocyte. In the era of high-throughput sequencing techniques, patients with nongenetic SRNS frequently escape the scientific interest.