A novel FLNA variant in a fetus with skeletal dysplasia

Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA . FLNA variants associated with lethal OPDSD primarily alter the CH2 subdomain of the ABD of FLNA. Herein, we report a nov...

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Bibliographic Details
Published in:Human genome variation 2022-12, Vol.9 (1), p.45-45, Article 45
Main Authors: Oshina, Kyoko, Kamei, Yoshimasa, Hori, Asuka, Hasegawa, Fuyuki, Taniguchi, Kosuke, Migita, Ohsuke, Itakura, Atsuo, Hata, Kenichiro
Format: Article
Language:English
Subjects:
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Biomedical and Life Sciences
Biomedicine
Birth defects
Bone dysplasia
Childrens health
Data Report
Dysplasia
Females
Fetuses
Gene Expression
Gene Function
Gene Therapy
Genetic counseling
Genomes
Gynecology
Human Genetics
Males
Medicine
Miscarriage
Molecular Medicine
Mutation
Obstetrics
Phenotypes
Proteins
Skeleton
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Description
Summary:Otopalatodigital spectrum disorder (OPDSD) is characterized by variable phenotypes, including skeletal dysplasia, and is caused by pathogenic variants in filamin A-encoding FLNA . FLNA variants associated with lethal OPDSD primarily alter the CH2 subdomain of the ABD of FLNA. Herein, we report a novel FLNA mutation in a fetus with severe skeletal dysplasia in a pregnant multigravida female with a history of repeated miscarriages and terminations.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-022-00224-7