scholarly journals Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene

2011 ◽  
Vol 26 (5) ◽  
pp. 356-358
Author(s):  
Ismail Al Rashdi,
Keyword(s):  
Late Onset ◽  
Repeat Expansion ◽  
Phox2b Gene ◽  
Repeat Expansion Mutation ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Expansion Mutation

scholarly journals Mutations of PHOX2B Gene in Patients of Obesity Hypoventilation Syndrome in Central India

2021 ◽  
Author(s):  
Ankita Tyagi ◽  
Abhishek Goyal ◽  
Prashant Chaware ◽  
Bertha A.D. Rathinam
Keyword(s):  
Sanger Sequencing ◽  
Late Onset ◽  
Venous Blood ◽  
Central India ◽  
Obesity Hypoventilation Syndrome ◽  
Cross Sectional ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Obesity Hypoventilation

Abstract Background Paired-like homeobox 2B (PHOX2B) gene on chromosome 4p12 codes for a transcription factor having a role in the formation of noradrenergic neuronal circuits. Its mutations have been linked to congenital central hypoventilation syndrome (CCHS). The clinical presentation of both, obesity hypoventilation syndrome (OHS) and CCHS in adults (named late-onset central hypoventilation syndrome), is quite similar. Because of this symptomatic similarity, multifactorial causation of OHS, the mutation of PHOX2B gene was studied in patients with OHS in this study. Methods A hospital-based cross-sectional study was performed on patients diagnosed with OHS. The deoxyribonucleic acid was extracted from 2 mL of venous blood and was further amplified, specific to exon 3. The amplified products were cast and run in 2% agarose gel and then subjected to Sanger sequencing. Results Thirty patients of OHS (21 male; 9 female) were enrolled in the present study, average age being 51.7 years. The Sanger sequencing of the samples revealed no apparent areas of deletions and no apparent mutations. Conclusion Primers for exon 3 were used for amplification in thermocycler, as exon 3 is the most frequently mutated exon for PHOX2B gene, as per existing literature. The entire gene needs to be studied for mutations and the sample size needs to be increased.

scholarly journals Genetic study of apatient with congenital central hypoventilation syndrome in Iran: a case report

2021 ◽  
Author(s):  
Reihaneh Khorasanian ◽  
Marzieh Mojbafan ◽  
Nastaran Khosravi
Keyword(s):  
Genetic Analysis ◽  
Genetic Study ◽  
Genetic Disorder ◽  
Repeat Expansion ◽  
Congenital Central Hypoventilation Syndrome ◽  
The Family ◽  
Central Hypoventilation ◽  
Genetics And Genomics ◽  
Hypoventilation Syndrome ◽  
Expansion Mutation

Abstract I. Background: Congenital central hypoventilation syndrome (CCHS) is an extremely rare genetic disorder characterized by autonomic nervous system (ANS) dysregulation caused by mutations in the PHOX2B gene. Here we introduce the first genetic analysis of a CCHS patient in Iran.II. Methods and Results: Genetic analysis of the PHOX2B gene was performed by Sanger sequencing and interpreted using the American College of Medical Genetics and Genomics (ACMG) guideline. The results showed a heterozygous duplication in the exon 3 causing a polyalanine repeat expansion mutation (PARMs) to 27 repeats in the PHOX2B gene (20/27 genotype). The patient’s parents were normal for this mutation.III. Conclusions: According to the ACMG guideline, the mutation is a pathogenic one, and it was a denovo mutation in the family. The genetic study can help the family for prenatal diagnosis or pre-implantation diagnosis if the parents have gonadal mosaicism.

Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation

2014 ◽  
Vol 19 (1) ◽  
pp. 55-60 ◽  
Author(s):  
Joana Magalhães ◽  
Núria Madureira ◽  
Rita Medeiros ◽  
Paula C. Fernandes ◽  
Myriam Oufadem ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals Congenital Central Hypoventilation Syndrome: A Comprehensive Review and Future Challenges

2014 ◽  
Vol 2014 ◽  
pp. 1-8
Author(s):  
Karin Ljubič ◽  
Iztok Fister ◽  
Iztok Fister
Keyword(s):  
Ventilatory Support ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Controller ◽  
Future Challenges ◽  
The Central Nervous System ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Cardiovascular Functions

Congenital central hypoventilation syndrome is a disorder predisposed by a paired-like homebox PHOX2B gene. A mutation in the PHOX2B gene is a requisite when diagnosing congenital central hypoventilation syndrome. This mutation is identified in 93–100% of diagnosed patients. The mutation regarding this disorder affects the sensors, the central controller, and the integration of the signals within the central nervous system. This, inter alia, leads to insufficient ventilation and a decrease in PaO2, as well as an increase in PaCO2. Affected children are at risk during and after the neonatal period. They suffer from hypoventilation periods which may be present whilst sleeping only or in more severe cases when both asleep and awake. It is important for clinicians to perform an early diagnosis of congenital central hypoventilation in order to prevent the deleterious effects of hypoxaemia, hypercapnia, and acidosis on the neurocognitive and cardiovascular functions. Patients need long-term management and appropriate ventilatory support for improving the qualities of their lives. This paper provides a detailed review of congenital central hypoventilation syndrome, a congenital disorder that is genetic in origin. We describe the genetic basis, the wider clinical picture, and those challenges during the diagnosis and management of patients with this condition.

scholarly journals A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

2010 ◽  
Vol 25 (8) ◽  
pp. 1237 ◽  
Author(s):  
Kyoung-Ah Kwon ◽  
Su-Eun Park ◽  
Shin-Yun Byun ◽  
Shine-Young Kim ◽  
Sang-Hyoun Hwang
Keyword(s):  
Gene Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome
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