BabyScreen+ newborn screening

Gene: TRNT1

I don't know

Complex disorder with some treatable features. Role of BMT uncertain.

Created: 16 Mar 2023, 4:59 a.m. | Last Modified: 16 Mar 2023, 4:59 a.m.

Panel Version: 0.1984

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084

I don't know

Onset infancy
Strong gene disease association

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopenia and hypogammaglobulinemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy. Death in the first decade may occur (summary by Wiseman et al., 2013).

Bone marrow transplant (hematopoietic stem cell transplantation (HSCT)), replacement immunoglobulin treatment

Allelic disease: Retinitis pigmentosa and erythrocytic microcytosis MIM#616959. Also AR.
DeLuca et al. (2016) concluded that hypomorphic TRNT1 mutations can cause a recessive disease that is almost entirely limited to the retina - this has teenage onset and is not treatable. can we exclude these variants?
Sources: Expert list

Created: 16 Mar 2023, 3:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084

Publications

• PMID: 25193871, PMID: 23553769, PMID: 33936027, PMID: 26494905