Treatment of neuroblastoma in congenital central hypoventilation syndrome with a PHOX2B polyalanine repeat expansion mutation: New twist on a neurocristopathy syndrome

2015 ◽  
Vol 62 (11) ◽  
pp. 2007-2010 ◽  
Author(s):  
Amy E. Armstrong ◽  
Debra E. Weese-Mayer ◽  
Amir Mian ◽  
John M. Maris ◽  
Vandana Batra ◽  
...  
Keyword(s):  
Repeat Expansion ◽  
Congenital Central Hypoventilation Syndrome ◽  
Repeat Expansion Mutation ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Expansion Mutation

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.

scholarly journals How the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center

2021 ◽  
Vol 9 ◽  
Author(s):  
Federica Porcaro ◽  
Maria Giovanna Paglietti ◽  
Claudio Cherchi ◽  
Alessandra Schiavino ◽  
Maria Beatrice Chiarini Testa ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Invasive Mechanical Ventilation ◽  
Repeat Expansion ◽  
Breath Holding ◽  
Congenital Central Hypoventilation Syndrome ◽  
Invasive Ventilation ◽  
Number Of Patients ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Over Time

Background: Congenital central hypoventilation syndrome (CCHS) is a rare disorder whose clinical phenotype is closely related to genotype.Methods: A retrospective analysis has been conducted on 22 patients with CCHS, who were referred to the Pediatric Pulmonology and Respiratory Intermediate Care Unit of Bambino Gesù Children's Hospital (Italy) for a multidisciplinary follow-up program between 2000 and 2020.Results: Apnea and cyanosis were the most frequent symptoms at onset (91%). Overall, 59% of patients required tracheostomy and invasive mechanical ventilation (IMV) in the first months of life. Thirty-two percent of patients had Hirschsprung disease (HSCR) that was associated with longer polyalanine repetitions or non-polyalanine repeat expansion mutations (NPARMs). Polyalanine repeat expansion mutations (PARMs) were more frequent and two novel NPARMs (c.780dupT and C.225–256delCT) were described in 14% of patients. Focal epilepsy was first described in 14% of patients and neurocognitive and neuromotor impairment involved 27% and 23% of children, respectively. Symptoms due to autonomic nervous system dysfunction/dysregulation (ANSD)—including strabismus (27%), dysphagia (27%), abnormal heart rhythm (10%), breath-holding spells (9%), and recurrent seizures due to hypoglycemia (9%)—were associated with an increased number of polyalanine repetitions of exon 3 or NPARMs of PHOX2B gene. Overall, the number of patients with moderate to severe phenotype initially treated with non-invasive ventilation (NIV) increased over time, and the decannulation program was concluded with 3 patients who started with IMV.Conclusions: Our study confirms that more severe phenotypes of CCHS are related to the number of polyalanine repetitions or to NPARMs. Although invasive ventilation is often required by patients with severe genotype/phenotype, gradual acquisition of specific skills in the management of patients with CCHS and technological improvements in mechanical ventilation allowed us to improve our therapeutic approach in this population.

scholarly journals Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome

2012 ◽  
Vol 57 (5) ◽  
pp. 335-337 ◽  
Author(s):  
Toru Meguro ◽  
Yuki Yoshida ◽  
Makiko Hayashi ◽  
Kentaro Toyota ◽  
Tesshu Otagiri ◽  
...  
Keyword(s):  
Congenital Central Hypoventilation Syndrome ◽  
Central Hypoventilation ◽  
Polyalanine Expansion ◽  
Hypoventilation Syndrome ◽  
Expansion Mutation
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