We report a male child with developmental delay, microcephaly and facial dysmorphism in the form of a turri-brachycephaly-shaped skull, triangular face, posteriorly rotated lop ears, thick bushy eyebrows, synophrys, long deep philtrum and prominent incisors. The mobile application Face2Gene was used to screen the patient’s facial photographs for known syndromes. The application suggested a high likelihood of KBG syndrome.

Progressive supranuclear palsy (PSP) has emerged as a key area of interest among researchers worldwide, including those in India, who have actively studied the disorder over the past several decades. This review meticulously explores the extensive range of Indian research on PSP up to the present and offers insights into both current initiatives and potential future directions for managing PSP within the region.

Large granular lymphocyte (LGL) leukemia is a rare hematologic malignancy characterized by clonal expansion of cytotoxic T-cells frequent somatic activating STAT3 mutations. Based on the disease overlap between LGL leukemia rheumatoid arthritis (RA)a putative role for CD8+ T-cells in RA we hypothesized that STAT3 mutations may be detected in RA patient CD8+ T-cells correlate with clinical characteristics. Blood samples, clinical parameters, and demographics were collected from 98 RA patients and 9 healthy controls (HCs). CD8+ cell DNA was isolated and analyzed via droplet digital (dd)PCR to detect STAT3 mutations common in LGL leukemia: Y640F, D661Y, and the S614 to G618 region. STAT3 data from 99 HCs from a public dataset supplemented our 9 HCs.

To evaluate the molecular aberrations at 11p15.5 locus in thirty-two patients with isolated lateralized overgrowth (ILO). Among selected 32 cases of ILO, methylation-sensitive multiplex ligation-dependent probe amplification (MS-MLPA) was performed initially followed by short tandem repeats (STR) marker analysis to confirm uniparental disomy (UPD). In those patients with normal MLPA reports, cyclin dependent kinase inhibitor 1C (CDKN1C) gene and whole exome sequencing was performed.

What is the frequency of PLCZ1, ACTL7A, and ACTL9 variants in male patients showing fertilization failure after ICSI, and how effective is assisted oocyte activation (AOA) for them?. Male patients with fertilization failure after ICSI manifest variants in PLCZ1 (29.09%), ACTL7A (14.81%), and ACTL9 (3.70%), which can be efficiently overcome by AOA treatment with ionomycin.

We aimed to describe the clinical and genetic characteristics of 16 individuals with KBG syndrome (KBGS) from 13 Indian families. We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic/pathogenic variant in ANKRD11. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) has been described in the literature mostly as early-onset leukodystrophy with cerebellar ataxia being the main clinical phenotype. However, other associated movement disorders have also been reported discretely. Here, we present seven cases of MLC.

Next-generation sequencing has enabled non-invasive diagnosis of type IV collagen disease beyond the typical presentation of Alport syndrome (AS). A review of clinical and histological records from 2015-2023 identified 43 patients (34 boys) with 39 variants in COL4A5 (n = 27), COL4A4 (n = 7), and COL4A3 (n = 5), with X-linked, autosomal recessive, and autosomal dominant inheritance in 30, 8, and 5 patients, respectively. The median age and eGFR at diagnosis were 10 years and 100.1 ml/min/1.73 m². Fifteen patients initially presented with steroid-resistant nephrotic syndrome, and AS was suspected due to persistent hematuria, low eGFR, characteristic histology, and non-response to immunosuppression. Kidney biopsies revealed focal segmental glomerulosclerosis, minimal change disease, or mesangial proliferative glomerulonephritis. Electron microscopy confirmed glomerular basement membrane changes in 12 cases. Nearly half (48.8%) had sensorineural hearing loss, and 12 patients progressed to chronic kidney disease stages 4-5, with median survival of 15.6 years with eGFR > 30 ml/min/1.73 m². The AS phenotype varies from urinary abnormalities to more severe manifestations, with worse outcomes in boys with X-linked disease.

Multiple myeloma, a complex hematologic malignancy, causes severe bone loss, pain, and fractures that significantly impact patients’ quality of life and survival. This article reviews current biomarkers used for diagnosis and prognosis, from traditional serum markers to advanced molecular profiling techniques, highlighting their utility and limitations. It emphasizes the role of personalized medicine in tailoring therapies and explores the integration of genomic, proteomic, and next-generation sequencing data to better understand disease progression. The article provides valuable insights for clinicians and researchers to optimize patient care and improve therapeutic strategies.