Sureni V. Mullegama
YOU?
Author Swipe
View article: Missense<i>ABI2</i>variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities
Missense<i>ABI2</i>variants linked to a neurodevelopmental disorder with intellectual disability, epilepsy, hypoplasia of the corpus callosum, and white matter abnormalities Open
The Abelson-interactor 2 gene ( ABI2) encodes a protein that functions as a regulator of Rac-dependent actin cytoskeleton dynamics, a highly coordinated structural framework essential for maintaining intracellular homeostasis and vital in …
View article: Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders
Characterization of the functional and clinical impacts of CACNA1A missense variants found in neurodevelopmental disorders Open
CACNA1A encodes the P/Q-type Ca V 2.1 calcium channels whose function underlies neuronal excitability, presynaptic neurotransmitter release, and Ca 2+ signaling in neurons. Pathogenic variants in CACNA1A have been found in individuals with…
View article: De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder
De novo variants in<i>KDM2A</i>cause a syndromic neurodevelopmental disorder Open
Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified de novo variants in KDM2A , a lysine demethylase crucial for embryonic dev…
View article: Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders Open
This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausib…
View article: Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene<i>PSMC5</i>in neurodevelopmental proteasomopathies Open
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis.…
View article: P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature
P588: De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome characterized by hypotonia, epilepsy, and short stature Open
DDX39B is a member of the DEAD-box family of ATP-dependent RNA helicases. DEAD-box proteins are ubiquitously expressed from yeast to humans and perform essential functions associated with mRNA metabolism. DDX39B is also a crucial component…
View article: Genetic variants in<i>DDX53</i>contribute to Autism Spectrum Disorder associated with the Xp22.11 locus
Genetic variants in<i>DDX53</i>contribute to Autism Spectrum Disorder associated with the Xp22.11 locus Open
Summary Autism Spectrum Disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus…
View article: <i>De novo</i>and inherited variants in<i>DDX39B</i>cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia
<i>De novo</i>and inherited variants in<i>DDX39B</i>cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia Open
DDX39B is a member of the DEAD-box family of ATP-dependent RNA helicases. DEAD-box proteins are ubiquitously expressed from yeast to humans and perform essential functions associated with mRNA metabolism. DDX39B is also a crucial component…
View article: The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase
The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase Open
Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome, but the function of the encoded protein remains unknown. We previously reported wide occurrence of O-mannose glycans on extracellular immunoglobulin…
View article: Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome Open
Predicted loss-of-function variants clustered in the 5' portion of TRA2B cause a new neurodevelopmental syndrome through an apparently dominant negative disease mechanism involving the use of an alternative translation start site and the o…
View article: De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations Open
We present genomic and functional evidence for disruption of ZMYND8 as a novel etiology of syndromic intellectual disability.
View article: The SHDRA syndrome associated gene TMEM260 encodes a protein-specific O-mannosyltransferase
The SHDRA syndrome associated gene TMEM260 encodes a protein-specific O-mannosyltransferase Open
Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome (SHDRA), but the function of the encoded protein remains unknown. We report that TMEM260 is an ER-located protein O-mannosyltransferase that selectiv…
View article: The clinical and molecular spectrum of <i>QRICH1</i> associated neurodevelopmental disorder
The clinical and molecular spectrum of <i>QRICH1</i> associated neurodevelopmental disorder Open
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of…
View article: Biallelic variants in <i>SLC38A3</i> encoding a glutamine transporter cause epileptic encephalopathy
Biallelic variants in <i>SLC38A3</i> encoding a glutamine transporter cause epileptic encephalopathy Open
The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed …
View article: Haploinsufficiency of SF3B2 causes craniofacial microsomia
Haploinsufficiency of SF3B2 causes craniofacial microsomia Open
Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet its genetic etiology remains unknown. We perform whole-exome or genome sequencing of 146 kindreds with sporadic (n = 138) or familial (n = 8) CFM, ident…
View article: Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder Open
In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case…
View article: EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Open
Background An identical homozygous missense variant in EIF3F , identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable in…
View article: Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Open
Additional file 1: Table S1. Detailed clinical information.