Rock around <i>DYRK1A</i>: Ethnic diversity, clinical challenges-Reference-Cited by-同舟云学术

Rock around DYRK1A: Ethnic diversity, clinical challenges

Published:2023-02-11 Issue:5 Volume:191 Page:1459-1464
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Moroni Alice¹^ORCID,Pezzani Lidia²³^ORCID,Alfei Enrico⁴^ORCID,Scatigno Agnese⁵,Cereda Anna⁵,Marzaroli Michela⁶,Guuva Claudia⁶,Gabbiadini Sara⁶,Pezzoli Laura²,Marchetti Daniela²,Spaccini Luigina⁷,Iascone Maria²^ORCID

Affiliation:

1. SC Genetica Medica U Città della Salute e della Scienza Torino Italy

2. Laboratorio di Genetica Medica ASST Papa Giovanni XXIII Bergamo Italy

3. Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano Italy

4. UOC Neurologia Pediatrica, Ospedale dei Bambini “Vittore Buzzi” ASST Fatebenefratelli‐Sacco Milano Italy

5. Pediatria, ASST Papa Giovanni XXIII Bergamo Italy

6. Neuropsichiatria dell'infanzia e dell'adolescenza ASST Papa Giovanni XXIII Bergamo Italy

7. Unità di Genetica Medica Dipartimento di ostetricia e ginecologia, Ospedale V. Buzzi Asst‐fbf‐Sacco Milano Italy

Abstract

AbstractDYRK1A‐related intellectual disability is a recently described syndrome characterized by microcephaly, global developmental delay, impaired speech development, and distinctive facial features, which let to define it as a recognizable syndrome. Here we report four new patients of different ethnicity, broadening the clinical phenotype of the condition and highlighting how ethnic influences in the facial appearance could make it less recognizable.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63140

Reference6 articles.

1. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

2. Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

3. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

4. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome

5. Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders