Congenital Heart Defect

Gene: LZTR1

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Noonan syndrome 10, MIM# 616564; Noonan syndrome 2, MIM# 605275

Green List (high evidence)

Several variants of LZTR1 demonstrate compound heterozygosity, implying an autosomal recessive mode of inheritance. Patients with LZTR1 variants had cardiac defects, and these LZTR1 variants are linked to a spectrum of conditions, including Noonan syndrome (NS), Costello syndrome, cardiofaciocutaneous syndrome, and other related disorders.

Many patients carrying LZTR1 variants are clinically suspected to have Noonan syndrome due to the presence of shared clinical features associated with NS. These features encompass relative macrocephaly, NS-associated facial characteristics, heart defects, intellectual disability, and short stature.
Sources: Literature

Created: 8 Nov 2023, 2:02 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiac defects; hypertrophic cardiomyopathy; atrial septal defect; pulmonary stenosis; short stature; intellectual disabilities

Publications

• PMID: 30368668
• 34184824