Article
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome.
Human genetics - 1 Sept 2006
Budny Bartlomiej, Chen Wei, Omran Heymut, Fliegauf Manfred, Tzschach Andreas, Wisniewska Marzena, Jensen Lars R, Raynaud Martine, Shoichet Sarah A, Badura Magda, Lenzner Steffen, Latos-Bielenska Anna, Ropers Hans-Hilger
Abstract excerpt
We report on a large family in which a novel X-linked recessive mental retardation (XLMR) syndrome comprising macrocephaly and ciliary dysfunction co-segregates with a frameshift mutation in the OFD1 gene. Mutations of OFD1 have been associated with oral-facial-digital type 1 syndrome (OFD1S) that is characterized by X-chromosomal dominant inheritance and lethality in males. In contrast, the carrier females of...
Topics
- Alleles
- Blotting, Northern
- Child
- Chromosome Mapping
- Ciliary Motility Disorders
- Craniofacial Abnormalities
- DNA, Complementary
- Female
- Frameshift Mutation