| dc.creator |
De Franco, Elisa |
|
| dc.creator |
Ellard, Sian |
|
| dc.date |
2020-10-05T09:16:14Z |
|
| dc.date |
2020-10-05T09:16:14Z |
|
| dc.date |
2020-07 |
|
| dc.date.accessioned |
2023-02-17T19:47:48Z |
|
| dc.date.available |
2023-02-17T19:47:48Z |
|
| dc.identifier |
Reichert SC et al. HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome. Clin Genet. 2020 Jul;98(1):91-98. doi: 10.1111/cge.13765. Epub 2020 May 15. |
|
| dc.identifier |
32335897 |
|
| dc.identifier |
10.1111/cge.13765 |
|
| dc.identifier |
https://rde.dspace-express.com/handle/11287/621439 |
|
| dc.identifier |
Clinical Genetics |
|
| dc.identifier.uri |
http://localhost:8080/xmlui/handle/CUHPOERS/241986 |
|
| dc.description |
Pathogenic variants in HNRNPH1 were first reported in 2018. The reported individual, a 13 year old boy with a c.616C>T (p.R206W) variant in the HNRNPH1 gene, was noted to have overlapping symptoms with those observed in HNRNPH2-related X-linked intellectual disability, Bain type (MRXSB), specifically intellectual disability and dysmorphic features. While HNRNPH1 variants were initially proposed to represent an autosomal cause of MRXSB, we report an additional seven cases which identify phenotypic differences from MRXSB. Patients with HNRNPH1 pathogenic variants diagnosed via WES were identified using clinical networks and GeneMatcher. Features unique to individuals with HNRNPH1 variants include distinctive dysmorphic facial features; an increased incidence of congenital anomalies including cranial and brain abnormalities, genitourinary malformations, and palate abnormalities; increased incidence of ophthalmologic abnormalities; and a decreased incidence of epilepsy and cardiac defects compared to those with MRXSB. This suggests that pathogenic variants in HNRNPH1 result in a related, but distinct syndromic cause of intellectual disability from MRXSB, which we refer to as HNRNPH1-related syndromic intellectual disability. |
|
| dc.description |
Centre for Biomedical Research on Rare Diseases, Grant/Award Number: ACCI14‐759; GENE ‐ Genomic analysis Evaluation NEtwork, Grant/Award Number: 2713 del 28/02/2018; Hesperia Foundation and the Secretariat for Universities and Research of the Ministry of Business and Knowledge of the Government of Catalonia, Grant/Award Number: 2017SGR1206; URDCat program, Grant/Award Number: PERIS SLT002/16/00174; Progetti di innovazione in ambito sanitario e socio sanitario Regione Lombardia |
|
| dc.description |
published version, accepted version (12 month embargo), submitted version |
|
| dc.language |
en |
|
| dc.publisher |
Wiley |
|
| dc.relation |
https://doi.org/10.1111/cge.13765 |
|
| dc.rights |
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd |
|
| dc.subject |
HNRNPH1 gene |
|
| dc.subject |
congenital abnormalities |
|
| dc.subject |
intellectual disability |
|
| dc.subject |
microcephaly |
|
| dc.subject |
whole exome sequencing |
|
| dc.subject |
Wessex Classification Subject Headings::Biochemistry |
|
| dc.title |
HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome |
|
| dc.type |
Journal Article |
|
| dc.type |
Published |
|