A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).

ABSTRACT:

Background

Bi-allelic variants in AFG2B (previously known as SPATA5L1) have recently been associated with a neurodevelopmental disorder with hearing loss and spasticity, as well as isolated hearing loss. We report on a 6 1/2-year-old girl with a history of global developmental delay, subsequent intellectual disability without relevant language acquisition, sensorineural hearing loss, muscular hypotonia and microcephaly.

Methods

We performed trio exome sequencing on the patient and her parents.

Results

Trio exome sequencing revealed likely pathogenic compound heterozygous missense variants in AFG2B [c.527G>T, p.(Gly176Val) and c.1313T>C, p.(Leu438Pro)] in the patient.

Conclusion

Of note, the change c.1313T>C, p.(Leu438Pro) has been observed in a previously publi

SUBMITTER: Grosch S 

PROVIDER: S-EPMC10767672 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature