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A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome
- Source :
- American journal of medical genetics. Part AREFERENCES. 182(3)
- Publication Year :
- 2019
-
Abstract
- Cohen syndrome (CS) is a rare autosomal recessive disorder associated with mutations in the vacuolar protein sorting 13 homolog B (VPS13B; formerly COH1) gene. The core clinical phenotype comprises a characteristic facial gestalt, marked developmental delay, and myopia. Additional, nonobligatory features include obesity, microcephaly, short stature, muscular hypotonia, scoliosis, narrow hands and feet, progressive retinopathy, as well as neutropenia. Here we report a novel homozygous nonsense mutation in the VPS13B gene and previously undescribed clinical features in a 19-year-old woman with developmental delay, intellectual disability, and a particular facial appearance. The patient showed several features consistent with CS. In addition, the parents observed congenital alacrima and anhidrosis persisting until onset of puberty. The diagnosis was not established based on the clinical phenotype. We performed whole-genome sequencing and identified a novel homozygous nonsense mutation c.62T>G (NM_152564.4), p.(Leu21*) in the VPS13B gene. Our findings extended the previously reported phenotype of CS. We conclude that transient, prepubertal alacrima and anhidrosis are part of the phenotypic spectrum of CS associated with a novel homozygous nonsense mutation in the VPS13B gene. peerReviewed
- Subjects :
- 0301 basic medicine
Adult
Male
Microcephaly
VPS13B gene
Cohen syndrome
prepubertal alacrima
prepubertal anhidrosis
Developmental Disabilities
Nonsense mutation
Vesicular Transport Proteins
030105 genetics & heredity
Alacrima
Short stature
Fingers
03 medical and health sciences
Young Adult
Intellectual Disability
Genetics
medicine
Myopia
Humans
Abnormalities, Multiple
Genetic Predisposition to Disease
Obesity
Anhidrosis
Child
Genetics (clinical)
Muscular hypotonia
Whole Genome Sequencing
business.industry
Homozygote
Retinal Degeneration
Brain
medicine.disease
3. Good health
VPS13B
030104 developmental biology
Codon, Nonsense
Child, Preschool
Muscle Hypotonia
Female
medicine.symptom
business
Subjects
Details
- ISSN :
- 15524833
- Volume :
- 182
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part AREFERENCES
- Accession number :
- edsair.doi.dedup.....c1d593a9d5bae557fc816941b057e572