Human Genome Nomenclature Committee (HGNC) NewsLetter. spring 2022

Update on genes with the ‘stable’ tag

We now have 2871 gene symbols tagged as ‘stable’ as of May 11th 2022, which is an increase of 50 genes since our Winter newsletter. Examples of genes within the new stable set include a number of clinically relevant zinc finger genes: ZDHHC5, ZDHHC15, ZMYM3, ZMYM5, ZMYND8, ZMYND10, ZMYND11 and ZMYND15.

We also added the stable tag to ANKLE2, a recessive mutation of which causes a form of microcephaly and ANKLE1 which is not listed in current sets of clinically relevant genes but was reviewed at the same time as ANKLE2, due to its shared root symbol.

We also added the stable tag to the most highly published lncRNA genes: H19, HOTAIR, MALAT1, MEG3, NEAT1, PCA3, PVT1, and XIST.
Updates to placeholder symbols

This quarter we have been able to update two C#orf symbols and a KIAA# symbol:

C11orf49 -> POU2AF2, POU class 2 homeobox associating factor 2
C19orf71 -> TEKTIP1, tektin bundle interacting protein 1
KIAA1109 -> BLTP1, bridge-like lipid transfer protein family member 1

Gene Symbols in the News

This section brings many hopeful stories of links between gene variants and specific conditions, which may help with future treatments.

First, a gene variant and a causative toxic agent have been found which are thought to have caused “Gulf War Syndrome” in combination – the toxic agent is sarin gas, which soldiers were exposed to at sublethal levels, and the variant is of the PON1 gene, which affects the ability of the body to break down toxic chemicals. This finding will hopefully lead to adequate care being offered for those suffering from the condition, the existence of which has previously been controversial.

A mutation in the TLR7 gene has been shown to cause a form of lupus erythematosus, and engineering this variant into mice causes the creatures to develop lupus-like symptoms. Although this gene is not causative for the majority of lupus cases, many lupus patients show an overactive TLR7 pathway, so this may be a target for wider future therapies for the autoimmune disease.

There is hope that niacin may be used to help treat patients with Alzheimer disease in the future. Studies in mouse models demonstrate that the vitamin activates the HCAR2 receptor in microglia, reducing the formation of plaques and neuronal pathology in the mouse brains.

There is hope that the association of two different variants of the GDF15 gene with hyperemesis gravidarum, an extreme form of sickness during pregnancy, may lead to quicker diagnoses and possible treatments in the future.

There is at least a possible silver lining for women who suffer from endometriosis, polycystic ovary syndrome (PCOS) and preeclampsia linked to the expression of a common IGF1R gene variant – a study has shown that this variant may also protect them from heart disease.

Finally, we like to end this section with news for a gene from one of our VGNC species whenever possible. This time, we bring news of the successful gene therapy treatment of dogs with congenital stationary night blindness – a single injection of LRIT3 gene therapy results in expression of the correct LRIT3 protein in the dog retinas and the enhanced ability of the dogs to successfully complete a maze in dim light.

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