A5014885130- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Williams Syndrome Research
- RNA modifications and cancer
- Hedgehog Signaling Pathway Studies
- Connective tissue disorders research
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Prenatal Screening and Diagnostics
- Nuclear Receptors and Signaling
- Wnt/β-catenin signaling in development and cancer
- Cancer-related gene regulation
- Plant Gene Expression Analysis
- Hereditary Neurological Disorders
- Muscle Physiology and Disorders
- Carbohydrate Chemistry and Synthesis
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Protein Tyrosine Phosphatases
- Coronary Artery Anomalies
- Cardiomyopathy and Myosin Studies
- Congenital limb and hand anomalies
- Lysosomal Storage Disorders Research
- Head and Neck Anomalies
Narayana Health
2015-2024
Sanskriti Samvardhan Mandal
2024
Swami Ramanand Teerth Marathwada University
2024
Mazumdar Shaw Medical Centre
2016-2024
Bangalore Medical College and Research Institute
2019
Mazumdar Shaw Medical Foundation
2016
Institute of Medical Sciences
2015
22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion and underdiagnosed in diverse populations. This has a variable phenotype affects multiple systems, making early recognition imperative. In this study, individuals from populations with DS were evaluated clinically by facial analysis technology. Clinical information 106 images 101 collected 11 countries; average age was 11.7 47% male. Individuals grouped into categories of African descent (African), Asian, Latin American....
Noonan syndrome (NS) is a common genetic associated with gain of function variants in genes the Ras/MAPK pathway. The phenotype NS has been well characterized populations European descent less attention given to other groups. In this study, individuals from diverse were evaluated clinically and by facial analysis technology. Clinical data images 125 obtained 20 countries an average age 8 years female composition 46%. Individuals grouped into categories African (African), Asian, Latin...
Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication the nasal defects, and loss identity between fibula tibia. The genetic basis LSS currently unknown. shows phenotypic overlap with Haas-type (HTS) regarding digital phenotype. Here we report on five unrelated families overlapping microduplications encompassing Sonic hedgehog (SHH) limb enhancer ZPA regulatory sequence (ZRS) chromosome 7q36....
Abstract The application of genomic technologies has led to unraveling the complex genetic landscape disorders epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed counseling. We herein present phenotypic genotypic from 142 Indian families with epilepsy or without comorbidities. Based on electroclinical findings, syndrome diagnosis could be made in 44% (63/142) adopting latest proposal for classification by ILAE task force...
Abstract The contribution of de novo variants as a cause intellectual disability (ID) is well established in several cohorts reported from the developed world. However, genetic landscape appropriate testing strategies for identification these disorders remain largely unknown low-and middle-income countries like India. In this study, we delineate clinical and genotypic spectrum 54 families (55 individuals) with syndromic ID harboring rare variants. We also emphasize on effectiveness singleton...
Turner syndrome (TS) is a common multiple congenital anomaly resulting from complete or partial absence of the second X chromosome. In this study, we explore phenotype TS in diverse populations using clinical examination and facial analysis technology. Clinical data 78 individuals images 108 with 19 different countries were analyzed. Individuals grouped into categories African descent (African), Asian, Latin American, Caucasian (European descent), Middle Eastern. The most features across all...
Abstract Williams–Beuren syndrome (WBS) is one of the microdeletion syndromes associated with distinct facial features, characteristic behavior phenotype (overfriendly behavior), congenital heart disease, and other malformations. Clinical features in WBS are age dependent. It important to be aware variable dependent phenotype, especially due its crucial role diagnosis. Here we describe at different ages (3 months 15.1 years) malformations 27 patients FISH positive for 7q11.23 microdeletion....
Acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease is an autosomal recessive lysosomal storage disorder caused by biallelic mutations in the SMPD1 gene. To date, around 185 have been reported patients with ASM‐deficient NPD world‐wide, but mutation spectrum of this India has not yet reported. The aim study was to ascertain profile Indian NPD. We sequenced 60 unrelated families affected A total 45 distinct pathogenic sequence variants were found, which 14 known and 31 novel. included...
Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with variable age onset. Nevertheless, the definitive validity SPG12 remains to be confidently confirmed due scarcity supporting evidence. In this study, we and validated seven novel or ultra-rare homozygous loss-of-function 14 individuals from consanguineous distal hereditary motor neuropathy (dHMN) using exome, genome Sanger...
ABSTRACT Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping findings with the other DAs classified by Bamshad et al. [1996]. Most of are inherited as autosomal dominant disorders. DA type 5D is a subtype 5 recessive disorder, clinically characterized congenital distal joint contractures, knee extension hip dislocation, club foot, ptosis eye findings, furrowed tongue, scoliosis. Here, we report on family features novel mutations in ECEL1 gene. © 2014 Wiley...
Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis. Chromosomal microarray (CMA) performed for three one Mendeliome sequencing used 11 all Whole exome (WES) 80 diagnostic 52 (65%). Singleton WES 50/75 (66.67%) Overall, diagnoses...
Abstract Marfan syndrome and related disorders are a group of heritable connective tissue share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, cutaneous abnormalities. The majority affected individuals have aortopathies associated with early mortality morbidity. Implementation targeted gene panel next-generation sequencing in these is powerful tool to obtain genetic diagnosis. Here, we report on spectrum 53 families from India total 83 patients who had...
Caudal regression is a rare syndrome with spectrum of structural defects involving multiple organ systems. Spinal anomalies, charecteristic feature the entity, can vary from isolated partial agenesis coccyx to lumbosacral involvement thoracic spine in most severe cases. The aetiology this not well-known. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. Severe forms disease are commonly associated cardiac, renal...
Chromosomal microdeletions and microduplications are known to cause variable clinical features ranging from apparently normal phenotype intellectual disability, multiple congenital anomalies, and/or other features. 7q11.23 region deletion is the for Williams–Beuren syndrome duplication of same causes distinguishable phenotype. Familial inheritance both microdeletion microduplication region. Here, we report a patient paternally inherited with developmental delay, macrocephaly, structural...
Exome sequencing (ES)-based diagnosis of Mendelian diseases in the fetus is limited by paucity phenotypic information. This study reports comprehensive phenotypes some fetuses with disorders.Next generation technology-based all coding regions genome (Exome sequencing) or targeted gene using Sanger next platforms was performed a cohort deeply phenotyped, cytogenetically normal morphological defects. Prenatal ultrasonographic and postmortem details including dysmorphology, histopathology,...
Abstract Ohdo syndrome–Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 (MED12) gene. Here we report familial OSMKB with two affected siblings and mutation MED12
Abstract CHST3‐related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3 . critical for the sulfation chondroitin sulfate. This study delineates clinical presentation nine individuals featuring key symptoms CDCJD; (knee and elbow) dislocations, short trunk stature progressive vertebral anomalies, metacarpal shortening. Additional manifestations include irregular distal femoral...
Robinow syndrome (RS) is a rare heterogeneous disorder characterized by short stature, short-limbs, craniofacial, oro-dental abnormalities, vertebral segmentation defects, and frequently genital hypoplasia. Both autosomal dominant recessive patterns of inheritance are observed with many causative genes. Here, we present the phenotypes genotypes four children RS from different Indian families. Sequence variants were identified in genes ROR2, DVL1, DVL3. Our results expand mutational spectrum...