Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome

J Dermatol. 2017 Jun;44(6):e111-e112. doi: 10.1111/1346-8138.13736. Epub 2017 Jan 20.

Authors

Yukiko Shigematsu¹, Ryota Hayashi², Kazue Yoshida¹, Ai Shimizu¹, Masaya Kubota³, Manabu Komori⁴, Yutaka Shimomura², Hironori Niizeki¹

Affiliations

¹ Department of Dermatology, National Center for Child Health and Development, Tokyo, Japan.
² Division of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
³ Departments of Neurology, Tokyo, Japan.
⁴ Departments of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan.

PMID: 28105683
DOI: 10.1111/1346-8138.13736

No abstract available

Publication types

Case Reports
Letter

MeSH terms

AAA Domain / genetics*
ATPases Associated with Diverse Cellular Activities / genetics*
Child
Electron Transport Complex III / genetics*
Female
Hair / pathology
Hair Diseases / genetics*
Hair Diseases / pathology
Hearing Loss, Sensorineural / genetics*
Hearing Loss, Sensorineural / pathology
Heterozygote
Humans
Mitochondrial Diseases / congenital*
Mitochondrial Diseases / genetics
Mitochondrial Diseases / pathology
Sequence Deletion

Substances

BCS1L protein, human
ATPases Associated with Diverse Cellular Activities
Electron Transport Complex III

Supplementary concepts

Bjornstad syndrome