Publication
Adding Evidence to the Role of NEUROG1 in Congenital Cranial Dysinnervation Disorders
| dc.contributor.author | Dupont, J | |
| dc.contributor.author | Vieira, JP | |
| dc.contributor.author | Tavares, AL | |
| dc.contributor.author | Conceição, C | |
| dc.contributor.author | Khan, S | |
| dc.contributor.author | Bertoli-Avella, AM | |
| dc.contributor.author | Sousa, AB | |
| dc.date.accessioned | 2021-06-09T08:36:11Z | |
| dc.date.available | 2021-06-09T08:36:11Z | |
| dc.date.issued | 2021-04 | |
| dc.description.abstract | Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing loss, and keratoconjunctivitis due to lack of corneal reflex. He had a long expressionless face, severe oromotor dysfunction, bilateral agenesis/severe hypoplasia of the VIII nerve with marked atresia of the internal auditory canals and cochlear labyrinth malformation. Trio-exome sequencing identified a homozygous loss of function variant in the NEUROG1 gene (NM_006161.2: c.202G > T, p.Glu68*). NEUROG1 is considered a causal candidate for CCDDs based on (i) the previous report of a patient with a homozygous gene deletion and developmental delay, deafness due to absent bilateral VIII nerves, and severe oromotor dysfunction; (ii) a second patient with a homozygous NEUROG1 missense variant and corneal opacity, absent corneal reflex and intellectual disability; and (iii) the knockout mouse model phenotype which highly resembles the disorder observed in humans. Our findings support the growing compelling evidence that loss of NEUROG1 leads to a very distinctive disorder of cranial nerves development. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Clin Genet . 2021 Apr;99(4):588-593 | pt_PT |
| dc.identifier.doi | 10.1111/cge.13922 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.17/3715 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.publisher | Wiley | pt_PT |
| dc.subject | NEUROG1 | pt_PT |
| dc.subject | Aplasia/Hypoplasia | pt_PT |
| dc.subject | Congenital cranial dysinnervation disorder | pt_PT |
| dc.subject | Oromotor dysfunction | pt_PT |
| dc.subject | Sensorineural deafness | pt_PT |
| dc.subject | Vestibulo-cochlear nerve aplasia | pt_PT |
| dc.subject | HDE NEU PED | pt_PT |
| dc.subject | HDE NRAD | pt_PT |
| dc.title | Adding Evidence to the Role of NEUROG1 in Congenital Cranial Dysinnervation Disorders | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 593 | pt_PT |
| oaire.citation.issue | 4 | pt_PT |
| oaire.citation.startPage | 588 | pt_PT |
| oaire.citation.title | Clinical genetics | pt_PT |
| oaire.citation.volume | 99 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
Files
Original bundle
1 - 1 of 1
Loading...
- Name:
- Clin Genet 2021_99_588.pdf
- Size:
- 996.48 KB
- Format:
- Adobe Portable Document Format