Genomic cause of mysterious syndrome identified

An online crowdfunding effort has finally answered a family’s pleas for help in determining why their young child has succumbed to a mysterious degenerative neurological syndrome involving involuntary eye movements, microcephaly, involuntary muscle contraction, developmental delay, and progressive neurological decline. The affected three-year-old girl and her parents underwent whole-exome sequencing to identify the genetic cause of the disease after other medical tests provided no answers. The genomic testing revealed a novel mutation in the tubulin β4A class IVa gene (TUBB4A) that causes mental retardation and severe developmental delays. The research team, led by Noam Shomron of Tel Aviv University, Israel, describes the novel crowdfunding mechanism used to support the research in a research article published in the Journal of Genetics and Genomics. Shomron is among many investigators worldwide who have set up a funding mechanism for families interested in pursuing personalized research projects for rare genetic diseases through the Rare Genomics Institute (http://www.raregenomics.org). “Crowdfunding provides the means for economically disadvantaged patients to pursue a genetic diagnosis for their ailment,” stated Shomron in a news release issued by Tel Aviv University. “Our project reached its financial goal of $5,000 within 50 days. We were pleased, to say the least. Crowdfunding is a simple and efficient solution for families with rare genetic diseases who lack private or outside funding sources.” —Karyn Hede, News Editor

Another novel gene mutation found for RP

A genomic study involving an extended six-generation Louisiana family with impaired vision has revealed a new gene mutation that can lead to retinitis pigmentosa (RP), the underlying cause of progressive vision loss in millions of people worldwide. The recent study, published in the journal Investigative Ophthalmology & Visual Science, found that a mutation in the gene hexokinase 1 (HK1) leads to the condition and is inherited through an autosomal dominant mechanism. One family member was found to carry two copies of the mutant gene and had a severe form of RP. Lead author Stephen Daiger, a member of the Human Genetics Center at The University of Texas Health Science Center at Houston, used a combination of strategies, including candidate-gene screening, genome-wide linkage mapping, and whole-genome sequencing to identify the coding mutation, an amino acid change, Glu847Lys. The HK1 protein normally acts as an enzyme, converting the sugar glucose to a modified form. The researchers suggest that the effect of this mutation is limited to the retina, as patients exhibit no other physical abnormalities. Further study revealed that the mutation is also present in four other families, from the United States, Canada, and Italy. They speculate that the mutation arose in a common ancestor who lived centuries ago. —Karyn Hede, News Editor

Genetics in Medicine | Mission Statement

Genetics in Medicine is a monthly journal committed to the timely publication of:

  • Original reports which enhance the knowledge and practice of medical genetics

  • Strategies and innovative approaches to the education of medical providers at all levels in the realm of genetics

As the official journal of the American College of Medical Genetics and Genomics (ACMG), the journal will:

  • Provide a forum for discussion, debate and innovation concerning the changing and expanding role of medical genetics within the broader context of medicine

  • Fulfill our responsibility to the College membership through the publication of guidelines, policy statements and other information that enhances the practice and understanding of medical genetics

Finally, as genetics becomes increasingly important in the wider medical arena, we will be an accessible and authoritative resource for the dissemination of medical genetic knowledge to providers outside of the genetics community through appropriate reviews, discussions, recommendations and guidelines.