Dynein Heavy Chain Domain 1

Alternative Names

  • DNHD1
  • Coiled-Coil Domain-Containing Protein 35
  • FLJ00251
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OMIM Number

617277

Gene Map Locus
11p15.4

Description

DNHD1 encodes Dynein Heavy Chain Domain 1, a protein belonging to the Dynein family of cytoskeletal motor proteins. While the protein is yet to be fully characterized, it is believed to carry out motor-driven movement along microtubules coupled to the hydrolysis of ATP. The ability of Dynein proteins to move to the minus end of microtubules, also known as retrograde transport, is essential for the transport of cell cargo, to provide forces and displacements required in mitosis, and to drive the beat of cilia and flagella.      

Molecular Genetics

The DNHD1 gene is located on the short arm of chromosome 11. It spans a length of 96 kb and its coding sequence is incorporated into 41 exons. The protein product encoded by this gene has a molecular mass of 533 kDa and consists of 4753 amino acids. Alternative splicing gives rise to multiple transcripts that encode several isoforms of the DNHD1 protein. The DNHD1 gene is overexpressed in the prostate, testis and fetal brain.   

Epidemiology in the Arab World

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Other Reports

Jordan

[See Saudi Arabia > Anazi et al., 2016]

Saudi Arabia

Anazi et al. (2016) evaluated 337 Intellectual Disability (ID) patients and found genomic tools to have a higher diagnostic yield than standard clinical evaluations. By using exome sequencing the authors found a homozygous truncating mutation (c.12347dup, p.Gln4117Alafs*14) in the DNHD1 gene of a 15 month old Saudi boy. The patient suffered from macrocephaly, global developmental delay, Dandy-Walker malformation with agenesis of the cerebellar vermis, corpus callosum and septum pellucidum, generalized seizures and hypotonia. Another homozygous truncating mutation (c.103delC, p.Leu36Trpfs*11) was found in a 2-year-old Jordanian boy suffering from cognitive impairment and developmental delay. The mutations were considered causal as they were loss-of function variants, had a minor allele frequency <0.001 based on 1500 Saudi exomes, fully segregated with the phenotype and there were no other candidate variants.    

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