LAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report.

Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion.

A child with dilated cardiomyopathy and homozygous splice site variant in gene.

gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in were initially linked to myofibrillar myopathy and over time, evidence showed association of this gene with different forms of autosomal dominant cardiomyopathy including hypertrophic, dilated and restrictive forms. Recently, two cases of recessive mutations have been reported by Reinstein et al.

Hemophagocytic Lymphohistiocytosis (HLH) Due to Fulminant Salmonella Sepsis in the Setting of IL12Rβ1 (Interleukin 12 Receptor Beta 1) Deficiency.

Interleukin 12 receptor beta 1 (IL12Rβ1) deficiency is the most common cause of Mendelian susceptibility to mycobacterial disease (MSMD). MSMD usually predisposes the affected individuals to infections with weakly virulent mycobacteria such as Bacille Calmette-Guérin (BCG), environmental mycobacteria, non-typhoidal Salmonella, and certain other intracellular pathogens. MSMD usually presents with disseminated BCG infection after exposure to the BCG vaccine.

Congenital Factor X-Riyadh (Stuart-Prower) Deficiency With Isolated Prothrombin Time Prolongation: A Case Report.

Factor X (FX) deficiency is an extremely rare autosomal recessive inherited coagulation defect. We report a case of congenital Factor X-Riyadh deficiency discovered during a routine workup before a dental procedure. During routine work-up for dental surgery, prothrombin time (PT) and the international normalized ratio (INR) were prolonged.

Autozygome and high throughput confirmation of disease genes candidacy.

Purpose: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel autosomal recessive disease genes. Here, we highlight the utility of the autozygome for the high throughput confirmation of previously published tentative links to diseases.

Coexistence of epileptic encephalopathy with continuous spike-and-wave during sleep, atypical benign partial epilepsy, and fixation-off sensitivity in two siblings.

Epileptic encephalopathy with continuous spike-and-wave during sleep is a rare age-related childhood encephalopathy characterized by neuropsychological and motor impairment, epilepsy, and typical EEG findings. Fixation-off sensitivity denotes forms of epilepsy and/or EEG abnormalities that occur during eye closure. The authors describe a girl with developmental regression, electrical status epilepticus during sleep (documented by video/EEG recording), and intermittent myoclonus.

Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature.

Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or microcephaly and chorioretinal dysplasia.