Intellectual disability genomics: current state, pitfalls and future challenges.
BMC Genomics
; 22(1): 909, 2021 Dec 20.
Article
in En
| MEDLINE
| ID: mdl-34930158
ABSTRACT
Intellectual disability (ID) can be caused by non-genetic and genetic factors, the latter being responsible for more than 1700 ID-related disorders. The broad ID phenotypic and genetic heterogeneity, as well as the difficulty in the establishment of the inheritance pattern, often result in a delay in the diagnosis. It has become apparent that massive parallel sequencing can overcome these difficulties. In this review we address (i) ID genetic aetiology, (ii) clinical/medical settings testing, (iii) massive parallel sequencing, (iv) variant filtering and prioritization, (v) variant classification guidelines and functional studies, and (vi) ID diagnostic yield. Furthermore, the need for a constant update of the methodologies and functional tests, is essential. Thus, international collaborations, to gather expertise, data and resources through multidisciplinary contributions, are fundamental to keep track of the fast progress in ID gene discovery.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Intellectual Disability
Type of study:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Limits:
Humans
Language:
En
Journal:
BMC Genomics
Journal subject:
GENETICA
Year:
2021
Type:
Article
Affiliation country:
Portugal