Gene/phenotype/disorder under study
* 610350, LINES HOMOLOG 1; LINS1
# 614340, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 27; MRT27
Abstract
Biallelic pathogenic variants in the LINS1 gene have been associated with a neurodevelopmental disorder (NDD) characterized by poor growth, microcephaly, hypotonia, delayed psychomotor development (including speech delay), hyperreflexia, and aggressive behaviour. Approximately 20 individuals with biallelic LINS1 variants have been reported in the literature, however, detailed phenotypic descriptions remain limited, and most cases originate from consanguineous families. We have recently identified three unrelated families with biallelic pathogenic LINS1 variants, living in Norway.
We are calling for cases, to systematically characterise the genetic and clinical spectrum of LINS1-related NDD, with the aim of better defining the associated natural history. We are particularly interested in additional patients from non-consanguineous families and/or compound heterozygous genotypes.
Supported by a grant from the University of Bergen.
Coordinating clinician
Sofia Douzgou Houge – sofia.douzgou.houge@helse-bergen.no ; Victoria.Lange@student.uib.no
Institution
Haukeland University Hospital, Department of Medical Genetics and the Western Norway
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No