Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings
- Resource Type
- Authors
- Sandra Iossa; Luigia De Falco; Elio Marciano; Antonella Gambale; Annamaria Franzè; Achille Iolascon; Mariateresa Falco
- Source
- American Journal of Medical Genetics Part A. 173:1348-1352
- Subject
- Hair Disease
Male
0301 basic medicine
Pathology
medicine.medical_specialty
Mitochondrial Diseases
Sibling
BCS1L
Hearing loss
Hearing Loss, Sensorineural
GRACILE syndrome
Mutation, Missense
Compound heterozygosity
Electron Transport Complex III
03 medical and health sciences
0302 clinical medicine
Genetic
Mitochondrial Disease
Genetics
medicine
Humans
Genetics (clinical)
Bjornstad syndrome
Pili torti
business.industry
Siblings
pili torti
Björnstad syndrome
ATPases Associated with Diverse Cellular Activitie
hearing lo
medicine.disease
Pedigree
030104 developmental biology
Hair disease
ATPases Associated with Diverse Cellular Activities
Female
Sensorineural hearing loss
novel mutation
medicine.symptom
Hair Diseases
business
030217 neurology & neurosurgery
Human
- Language
- ISSN
- 1552-4833
1552-4825
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L. A thorough clinical evaluation did not reveal any features consistent with complex III deficiency or GRACILE syndrome.