Wiley Online Library : American Journal of Medical Genetics Part A
15 followers 18 articles/week
Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing

Abstract Niemann–Pick disease type C (NPC) is one of the lysosomal storage disorders. It is caused by biallelic pathogenic variants in NPC1 or NPC2, which results in a defective cholesterol trafficking inside the late endosome and lysosome. There is a high clinical variability in the age of presentation and the phenotype of this disorder making the...

Fri Mar 29, 2024 10:07
Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review

Abstract Biallelic pathogenic variants in ZNF335 are one of the genetic causes of microcephaly, reported only in the past decade. It regulates neural progenitor proliferation and neurogenesis by interacting with a H3K4 methyltransferase complex. Biallelic pathogenic ZNF335 variants predispose to neuronal cell death and aberrant differentiation, thus...

Fri Mar 29, 2024 10:07
Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome

Abstract Our study characterized the neurodevelopmental spectrum of individuals with PTEN Hamartoma Tumor Syndrome (PHTS), a syndrome that predisposes to both neurodevelopmental phenotypes and cancer risk. We aim to better understand life-impacting neurodevelopmental features of PHTS. Our study recruited 20 children/adolescents with PHTS, who were...

Fri Mar 29, 2024 10:07
Patient experiences of receiving a diagnosis of hypermobile Ehlers–Danlos syndrome

Abstract Hypermobile Ehlers–Danlos syndrome (hEDS) presents with a wide range of clinical symptoms and comorbidities that impact quality of life. The diagnosis is challenging and often delayed due to the heterogeneity of the disease and lack of diagnostic biomarkers, which adds to the disease burden by affecting patients' psychosocial adaptation and...

Fri Mar 29, 2024 10:07
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene

Abstract Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is a multisystem disorder which associates specific skin lesions that evolves in four stages, and occasionally, central nervous system, eye, hair, and teeth involvement. Familial (35%) and sporadic (65%) cases are caused by pathogenic variants in the IKBKG gene. Here we report an unusual...

Thu Mar 28, 2024 10:57
Diagnostic findings and yield of investigations for children with developmental regression

Abstract Childhood conditions that feature developmental regression are poorly understood. Phenotype–genotype characterization and diagnostic yield data are needed to inform clinical decision-making. The aim of this study was to report the conditions featuring developmental regression and assess diagnostic yields of investigations. A retrospective...

Thu Mar 28, 2024 10:57

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