scholarly journals Novel SNX13 Frameshift Variant in an Individual with Developmental Delay

2021 ◽  
pp. 1-6
Author(s):  
Xicheng Tao ◽  
Yueping Che ◽  
Chenxi Li ◽  
Wencong Ruan ◽  
Jialu Xu ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Protein Trafficking ◽  
Intracellular Signaling ◽  
Homozygous Deletion ◽  
Multiple Roles ◽  
Global Developmental Delay ◽  
Sorting Nexin ◽  
Cognitive Delay ◽  
Number Of Genes ◽  
First Time

Recently, an increasing number of genes have been associated with global developmental delay (GDD) and intellectual disability (ID). The sorting nexin (SNX) protein family plays multiple roles in protein trafficking and intracellular signaling. SNXs have been reported to be associated with several disorders, including Alzheimer disease and Down syndrome. Despite the growing evidence of an association of SNXs with neurodegeneration, SNX13 deficiency has not been associated with GDD or ID. In this study, we present the case of a 4-year-old boy with brain dysplasia and GDD, including language delay, cognitive delay, and dyskinesia. Exome sequencing revealed a 1-bp homozygous deletion in <i>SNX13</i> (NM_015132.5: exon8: c.742_743del; p.Tyr248Leufs*20), which caused a frameshift and predicted early termination. Sanger sequencing confirmed that the variant was inherited from his parents respectively. Our findings associate <i>SNX13</i> variation with GDD for the first time and provide a new GDD candidate gene.

scholarly journals A deletion in CFL-2 gene associated with Severe Nemaline Myopathy with peculiar features

2021 ◽  
Author(s):  
Eduardo Macedo de Souza Tieppo ◽  
Miriam Eva Koch ◽  
Alzira Alves de Siqueira Carvalho
Keyword(s):  
Protein Trafficking ◽  
Nemaline Myopathy ◽  
Pubic Hair ◽  
Homozygous Deletion ◽  
Congenital Myopathy ◽  
Early Puberty ◽  
Sorting Nexin ◽  
New Variant ◽  
Severe Hypotonia ◽  
Previous Disease

Context: Nemaline myopathy (NM) is the most common congenital myopathy characterized by muscle weakness and presence of nemaline bodies (rods) in muscle biopsy. Phenotype ranges from neonatal death to normal lifespan. 13 genes have been reported. We describe a new variant in cofilin 2 gene (CFL2;OMIM*601443). Case report: A 5-year-old boy born severely hypotonic and unable to breathe, in need of mechanic ventilation. Healthy non-consanguineous parents. Physical examination: severe hypotonia with only extraocular motricity preserved and multiple contractures. Dysmorphic features were observed as brachycephaly, hypertelorism, pseudohypertrophy, macroglossia, premature pubic hair. Deep reflexes were absent. CK: 1010U/l. DHEA-S elevated. Muscular biopsy: Rods, cores and dystrophic pattern. Exome: homozygous deletion in exons 1 to 4 of CFL2 and partial deletion of the next gene Sorting nexin-6 (SNX6) in Chr14:34.563.122-34.714.639. Conclusion: 9 cases were described previously: Age onset was before 31 months. 4 presented respiratory distress at birth, 1 presented macroglossia, 2 contractures, 2 spinal deformities and 3 delayed motor milestones. Our patient presents an extent deletion in homozygosis not described before. A second deletion was found in SNX6, which is involved in protein trafficking and is expressed in different cells, as endocrine and cardiac. The early puberty and dimorphisms could be due to SNX6, though there is no previous disease caused by this gene. Among differential diagnosis of macroglossia, congenital myopathy caused by CFL2 should be considered.

scholarly journals The Insect Type 1 Tyramine Receptors: From Structure to Behavior

Insects ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 315
Author(s):  
Luca Finetti ◽  
Thomas Roeder ◽  
Girolamo Calò ◽  
Giovanni Bernacchia
Keyword(s):  
Intracellular Signaling ◽  
Physiological Role ◽  
Basic Structure ◽  
Special Focus ◽  
Behavioral Traits ◽  
Physiological Relevance ◽  
Transduction Mechanisms ◽  
Octopamine Receptor ◽  
Available Information ◽  
First Time

Tyramine is a neuroactive compound that acts as neurotransmitter, neuromodulator, and neurohormone in insects. Three G protein-coupled receptors, TAR1-3, are responsible for mediating the intracellular pathway in the complex tyraminergic network. TAR1, the prominent player in this system, was initially classified as an octopamine receptor which can also be activated by tyramine, while it later appeared to be a true tyramine receptor. Even though TAR1 is currently considered as a well-defined tyramine receptor and several insect TAR1s have been characterized, a defined nomenclature is still inconsistent. In the last years, our knowledge on the structural, biochemical, and functional properties of TAR1 has substantially increased. This review summarizes the available information on TAR1 from different insect species in terms of basic structure, its regulation and signal transduction mechanisms, and its distribution and functions in the brain and the periphery. A special focus is given to the TAR1-mediated intracellular signaling pathways as well as to their physiological role in regulating behavioral traits. Therefore, this work aims to correlate, for the first time, the physiological relevance of TAR1 functions with the tyraminergic system in insects. In addition, pharmacological studies have shed light on compounds with insecticidal properties having TAR1 as a target and on the emerging trend in the development of novel strategies for pest control.

Complications and Sequelae in Patients With Congenital Microcephaly Associated With Zika Virus Infection: Two-Year Follow-Up

2021 ◽  
pp. 088307382098316
Author(s):  
Luane A. Gouvea ◽  
Marlos Martins ◽  
Daniela Vivacqua ◽  
Julia Rosseto ◽  
Giulia Lima ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Zika Virus ◽  
Median Number ◽  
Global Developmental Delay ◽  
Spastic Diplegia ◽  
Long Term Follow Up ◽  
Congenital Microcephaly ◽  
Auditory Impairment ◽  
Worse Prognosis

Background: We aim to describe the long term follow-up of a cohort of children exposed in utero to the Zika virus. Methods: Descriptive study of a cohort of microcephalic children due to Zika virus. Logistic regression was used to evaluate variables associated with worse prognosis epilepsy. Results: We followed 28 children (15 females), with a median follow-up of 24 months (IQR = 12-28). During the follow-up, 1 infant died. The median head circumference at birth was 29 cm (IQR = 27-31). All presented a global developmental delay. The most frequent central nervous system abnormalities were on cortical development in 22 participants; dysgenesis of corpus callosum in 13; ventriculomegaly in 25; and calcifications in 24. A total of 9 presented ocular abnormalities, 4 auditory impairment. During follow-up, 12 presented with sleep disorders, 10 with irritability, and 23 with epilepsy (2 with generalized tonic-clonic, 3 with generalized tonic-clonic and spasms, 12 with spasms, 3 tonic and spasms, and 3 motor focal and spasms). The median age at the begin of the epilepsy was 4 months (IQR = 2-10), the median number of drugs used to control the epilepsy was 2 (IQR = 2-3). Maternal illicit drug use during pregnancy was associated with worse prognosis epilepsy (Lennox-Gastaut syndrome, West syndrome, or status epilepticus). A total of 19 presented with dysphagia, 10 children required gastrostomy. Conclusion: Children with microcephaly due to Zika virus presented with several complications during follow-up, as epilepsy, spastic diplegia, and global developmental delay.

scholarly journals Genetic Evaluation of Children with Global Developmental Delay—Current Status of Network Systems in Taiwan

2015 ◽  
Vol 56 (4) ◽  
pp. 213-219
Author(s):  
Yong-Lin Foo ◽  
Julie Chi Chow ◽  
Ming-Chi Lai ◽  
Wen-Hui Tsai ◽  
Li-Chen Tung ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Genetic Evaluation ◽  
Current Status ◽  
Global Developmental Delay ◽  
Network Systems

Global Developmental Delay in a 10-Month-Old Infant Boy

2009 ◽  
Vol 30 (1) ◽  
pp. 72-74 ◽  
Author(s):  
Nathan J. Blum ◽  
Lynne M. Bird ◽  
Martin T. Stein
Keyword(s):  
Developmental Delay ◽  
Global Developmental Delay
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