Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.

ABSTRACT:

Background

Joubert syndrome is a genetically heterogeneous autosomal recessive ciliopathy characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles and a deep interpeduncular fossa, known as "molar tooth sign" associated with hypotonia, respiratory control disturbances and abnormal eye movements. To date, pathogenic variants in over 35 genes are known to cause autosomal recessive Joubert Syndrome, while one gene is associated with X-linked recessive inheritance.

Case presentation

We describe here a non-consanguineous Vietnamese family with Joubert syndrome, a fetus and 10-year-old developmentally delayed boy. Ultrasonography showed ventriculomegaly at 26 + 6 weeks of gestation in the fetus. The 10-y

SUBMITTER: Bui TPH 

PROVIDER: S-EPMC6993522 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature