This report describes neuropathy, hereditary sensory and autonomic, type VIII (HSAN8), which is a subtype of neuropathy, hereditary sensory and autonomic; HSAN8 exhibits autosomal recessive inheritance. The human gene implicated in this disease, PRDM12 (PR/SET Domain 12), encodes a transcriptional regulator involved in the regulation of histone H3-K9 dimethylation; it plays a key role in vertebrate neurogenesis. There are only distantly related genes orthologous to PRDM12 in Drosophila.
Multiple different UAS constructs of the human Hsap\PRDM12 gene have been introduced into flies, including wild-type PRDM12 and genes carrying mutational lesions implicated in HSAN8. Variant(s) implicated in human disease tested (as transgenic human gene, PRDM12): the E172D, D31Y, W160C, and R168C variant forms of the human gene have been introduced into flies.
[updated Jul. 2017 by FlyBase; FBrf0222196]
Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons (Auer-Grumbach, 2013; pubmed:23931820).
Hereditary sensory and autonomic neuropathies (HSANs) occur much less frequently than do the primary hereditary motor sensory neuropathies (HMSNs) (http://www.uptodate.com/contents/hereditary-sensory-and-autonomic-neuropathies).
The hereditary sensory and autonomic neuropathies (HSAN), which are also referred to as hereditary sensory neuropathies (HSN), are a genetically and clinically heterogeneous group of disorders associated with sensory dysfunction, typically characterized by characterized by insensitivity to pain and resulting in injury to the fingers, tongue, lips, and other distal appendages. [from MIM:162400, MIM:616488; 2017.07.10]
[NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII; HSAN8](https://omim.org/entry/616488)
[PR DOMAIN-CONTAINING PROTEIN 12; PRDM12](https://omim.org/entry/616458)
Hereditary sensory and autonomic neuropathy type VIII is an autosomal recessive neurologic disorder characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. Affected individuals may also have decreased sweating and tear production (summary by Chen et al., 2015; pubmed:26005867). [from MIM:616488; 2017.07.10]
Hereditary sensory and autonomic neuropathy type VIII (HSAN8) is caused by homozygous mutation in the PRDM12 gene. [from MIM:616488; 2017.07.10]
PRDM12 encodes a protein involved in the positive regulation of histone H3-K9 dimethylation. [Gene Cards, PRDM12; 2017.07.10]
The PRDM12 gene encodes a member of a family of transcriptional regulators that participate in the control of vertebrate neurogenesis. [from MIM:616458; 2017.07.10]
The only genes orthologous to PRDM12 in Drosophila are very low-scoring in DIOPT.
