In this report, we describe for the second time a patient with Usmani-Riazuddin syndrome in association to a novel AP1G1 variant. He displays a complex phenotype with multisystemic involvement, including intellectual disability, speech and developmental delay, behavioral anomalies, arrhythmias, hearing loss, skin changes, and limb defects. Next generation...

We describe a child presenting with an acute promyelocytic leukemia prior to recognition of a diagnosis of Fanconi Anemia associated with biallelic variants in FANCD1/BRCA2 gene. We review the literature on the association between these two rare conditions and the overall clinical management strategy for this child. Abstract Acute promyelocytic...

This study identified a variant in ZCCHC8 in a family with pulmonary fibrosis, elevated liver enzymes and short telomeres and a novel variant in the J6a-6.1 region of TERC in a family with pulmonary fibrosis, hematological disease, and short telomeres. Abstract Telomere biology disorder (TBD) can present within a wide spectrum of symptoms ranging...

This is the first report of a severe neurodevelopmental delay disorder attributed to a biallelic loss-of-function deletion in CTNND2. Other clinical features included microcephaly, short stature, lower limb hypertonia, and kyphosis. This clinical entity is distinct from the mild condition caused by monoallelic CTNND2 alterations, here named as Rauch-Azzarello...

We describe a cohort of 39 Chinese patients with glycogen storage diseases type I, VI, and IX. Thirty-two mutations in G6PC1, PYGL, PHKA2, and PHKB genes were identified, with 14 of them being novel variants. A deep phenotypic characterization of the cohort was also described. Abstract Glycogen storage diseases (GSDs) are abnormally inherited...

The objective of this study is to clarify the genetic foundation of hereditary retinal diseases in a Turkish population by gathering data from 354 probands. Using the panel-based NGS method, 103 genes were assessed, resulting in a diagnostic success rate of 58.1%. Abstract This research aims to compile recent clinical and genetic data from...