Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.30788
Abstract: TMEM67 (mecklin or MKS3) locates in the transition zone of cilia. Dysfunction of TMEM67 disrupts cilia‐related signaling and leads to developmental defects of multiple organs in humans. Typical autosomal recessive TMEM67 defects cause partial overlapping… read more here.
Keywords: cholestasis; tmem67 variants; tmem67; glutamyl transpeptidase ... See more keywords
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
Sign Up to like & getrecommendations! Published in 2018 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-018-0183-6
Abstract: A rare syndrome was first described in 1997 in a 17-year-old male patient presenting with Retinitis pigmentosa, HYpopituitarism, Nephronophthisis and Skeletal dysplasia (RHYNS). In the single reported familial case, two brothers were affected, arguing for… read more here.
Keywords: variants ciliary; ciliary gene; gene tmem67; tmem67 ... See more keywords
Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome
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DOI: 10.1038/s41598-017-10652-z
Abstract: COACH syndrome is an autosomal recessive developmental disorder, a subtype of Joubert syndrome and related disorders, characterized by cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Although mutations in TMEM67 (transmembrane protein 67)/MKS3 (Meckel-Gruber… read more here.
Keywords: novel; coach syndrome; functional validation; mks3 ... See more keywords
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Medical Genetics"
DOI: 10.1186/s12881-020-0962-0
Abstract: 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”… read more here.
Keywords: joubert syndrome; family joubert; tmem67; vietnamese family ... See more keywords