Dhanya Yesodharan
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View article: Mutations in the Key Autophagy Tethering Factor <scp>EPG5</scp> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Mutations in the Key Autophagy Tethering Factor <span>EPG5</span> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism Open
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating v…
View article: Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders Open
Autophagy is a fundamental and evolutionary conserved biological pathway with vital roles in intracellular quality control and homeostasis. The process of autophagy involves the engulfment of intracellular targets by autophagosomes and the…
View article: The <scp>E262K</scp> mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging
The <span>E262K</span> mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging Open
Deleterious, mostly de novo, mutations in the lamin A ( LMNA ) gene cause spatio‐functional nuclear abnormalities that result in several laminopathy‐associated progeroid conditions. In this study, exome sequencing in a sixteen‐year‐old mal…
View article: Successful Pregnancy Outcome in a Patient with Pompe Disease Receiving Enzyme Replacement Therapy: A Case Report and Review of the Literature
Successful Pregnancy Outcome in a Patient with Pompe Disease Receiving Enzyme Replacement Therapy: A Case Report and Review of the Literature Open
Pregnancy in a woman with Pompe disease should be considered to be high risk and requires close monitoring as pregnancy may worsen symptoms, or cause initial symptoms to progress. Clinical data regarding the use of Enzyme Replacement Thera…
View article: Biallelic variants in <i>VPS50</i> cause a neurodevelopmental disorder with neonatal cholestasis
Biallelic variants in <i>VPS50</i> cause a neurodevelopmental disorder with neonatal cholestasis Open
Golgi-associated retrograde protein (GARP) and endosome-associated recycling protein (EARP) complexes are membrane-tethering heterotetramers located at the trans-Golgi network and recycling endosomes, respectively. GARP and EARP share the …
View article: Protein instability associated with <i>AARS1</i> and <i>MARS1</i> mutations causes trichothiodystrophy
Protein instability associated with <i>AARS1</i> and <i>MARS1</i> mutations causes trichothiodystrophy Open
Trichothiodystrophy (TTD) is a rare hereditary neurodevelopmental disorder defined by sulfur-deficient brittle hair and nails and scaly skin, but with otherwise remarkably variable clinical features. The photosensitive TTD (PS-TTD) forms e…
View article: Werner Syndrome
Werner Syndrome Open
A 36-year-old male presented with young-onset diabetes and advanced peripheral vascular disease. He had a history of bilateral juvenile cataracts and premature aged appearance. Closer scrutiny unraveled multiple endocrine and nonendocrine …
View article: Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients Open
Fabry disease (FD) is a treatable X linked lysosomal storage disorder with a wide phenotypic spectrum. There is a scarcity of published data on the burden of FD in India. This study evaluates the clinical and molecular spectrum of Indian p…
View article: Turner syndrome in diverse populations
Turner syndrome in diverse populations Open
Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination an…
View article: Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report
Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report Open
Our study highlights the importance of homozygosity mapping and exome sequencing in molecular prenatal diagnosis, especially when multiple gene mutations are responsible for the phenotype.
View article: GM2 activator protein deficiency, mimic of Tay-Sachs disease
GM2 activator protein deficiency, mimic of Tay-Sachs disease Open
GM2 Gangliosidoses are a group of autosomal recessive genetic disorders caused by intra-lysosomal deposition of ganglioside GM2 mainly in the neuronal cells. GM2-Activator protein deficiency is an extremely rare type of GM2 gangliosidosis …
View article: Prenatal diagnosis of nail patella syndrome: A case report
Prenatal diagnosis of nail patella syndrome: A case report Open
The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and kne…
View article: Osteoglophonic Dysplasia: Phenotypic and Radiological Clues
Osteoglophonic Dysplasia: Phenotypic and Radiological Clues Open
Osteoglophonic dysplasia (OD) is an extremely rare, skeletal dysplasia with an autosomal dominant mode of inheritance. Rhizomelic dwarfism, craniosynostosis, impacted teeth, hypodontia or anodontia, and multiple nonossifying bone lesions a…
View article: Plexiform Neurofibroma of Clitoris
Plexiform Neurofibroma of Clitoris Open
The most frequent genital presentation of neurofibromatosis in females is clitoromegaly. We report a case of a 5-year-old girl with neurofibromatosis type 1 with clitoral plexiform neurofibromatosis. Clitoroplasty was done, and the histopa…
View article: Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay
Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay Open
Background & objectives: Subtelomeres are prone to deleterious rearrangements owing to their proximity to unique sequences on the one end and telomeric repetitive sequences, which increase their tendency to recombine, on the other end. The…
View article: Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia
Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia Open
The H223R mutation is typically associated with profound hypercalcemia despite low/normal PTH levels. However, the findings presented herein show that overt hypercalcemia is not always encountered in JMC, even if caused by this relatively …
View article: Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy
Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy Open
Microduplications, in general, are reported at a lesser frequency, perhaps owing to their milder phenotype. Complete genetic assessment in children with idiopathic intellectual disability would help in identifying rare conditions such as d…