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Review

YIF1B-Related Neurodevelopmental Disorder

Eva Medico-Salsench  1 , Namik Kaya  2 , Tahsin Stefan Barakat  1
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
.
Affiliations
Free Books & Documents
Review

YIF1B-Related Neurodevelopmental Disorder

Eva Medico-Salsench et al.
Free Books & Documents

Excerpt

Clinical characteristics: YIF1B-related neurodevelopmental disorder (YIF1B-NDD) is characterized by severe-to-profound developmental delay / intellectual disability with variable motor abnormalities including axial hypotonia, peripheral hypertonia, dystonia, and dyskinesia; absence of speech in most individuals or very limited speech subject to regression; feeding difficulties; seizures; postnatal microcephaly with nonspecific brain MRI abnormalities; and ophthalmologic involvement (strabismus, nystagmus, optic atrophy, and cortical blindness). Some individuals have hypoventilation.

Diagnosis/testing: The diagnosis of YIF1B-NDD is established in a proband with suggestive findings and biallelic pathogenic variants in YIF1B identified by molecular genetic testing.

Management: Treatment of manifestations: Developmental and educational support; feeding therapy; gastrostomy tube placement if required for persistent feeding issues; standardized treatments for movement disorder and seizures by an experienced neurologist; treatment per ophthalmologist for refractive errors and strabismus; low vision services as needed; consider ventilation therapy when hypoventilation becomes evident; social work and family support.

Surveillance: Monitor developmental progress, educational needs, growth, nutritional status, safety of oral intake, and changes in seizures at each visit; assess for any new manifestations including seizures, changes in tone, movement disorders, or manifestations of central hypoventilation at each visit; ophthalmology evaluation per treating ophthalmologist; behavioral assessment annually.

Genetic counseling: YIF1B-NDD is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a YIF1B pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the YIF1B pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal/preimplantation genetic testing are possible.

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