Skoura – a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the <i>NTRK1</i> gene

Suriu, Celia; Khayat, Morad; Weiler, Markus; Kfir, Nehama Cohen; Cohen, Carl M.; Zinger, Avner; Aslanidis, Charalampos; Schmitz, Gerd; Falik-Zaccai, TC

doi:10.1111/j.1399-0004.2008.01143.x

Cited by 14 publications

(7 citation statements)

References 37 publications

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“…The authors screened for mutations in the NTRK1 gene and revealed one novel frameshift mutation, two novel nonsense mutations, and three unrelated types with the same splice-site mutation; genotyping of the three families with the identical splice-site mutation showed that they share the same haplotype, suggesting that a specific mutation developed in Turkey. Similar mutations have been found in Morocco: in the March 2009 issue of Clinical Genetics, Suriu and colleagues, from the Institute of Human Genetics at the Western Galilee Hospital-Nahariya, Israel, identified an identical novel nonsense mutation in two unrelated families of Moroccan Jewish descent, each with two affected siblings [17]. The authors reason that the founder mutation may be traced to the rural Jewish village in southern Morocco from where both these families originated.…”

Section: Genetic Clustersmentioning

confidence: 83%

Developments in autonomic research: a review of the latest literature

Macefield

2009

Clin Auton Res

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Small-diameter afferents do not just subserve pain and temperature sensibilities, important for protection of the body though they are: there is a system of lowthreshold unmyelinated afferents that respond to light stroking (C-tactile afferents) and they are believed to subserve the affective components of touch. Patients with large-fibre sensory neuropathies exhibit skin sympathetic responses to stroking, and report the stimuli as feeling pleasant. Moreover, the posterior insula is activated. Patients with small-diameter sensory neuropathies, specifically those with congenital insensitivity to pain, suffer from cumulative injuries that can lead to joint degeneration. There is evidence that the nociceptive (and sympathetic) axons die because nerve growth factor is not being produced by the target tissues; patients with congenital insensitivity to pain have mutations in the NTRK1 gene, the gene responsible for producing the TrkA receptor, but there is also evidence for mutations in the SCN9A gene, which codes for a specific subunit of the voltage-gated sodium channel. Specific mutations, leading to clusters of cases of congenital insensitivity to pain, have been found in several geographical locations, with several genetic mutations having been documented. Interestingly, even patients with congenital insensitivity to pain, despite having never experienced pain, can still empathise with the pain in others-we do not need to feel pain in order to empathise, but we do need to feel pain in order to ensure that our body looks after itself.

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Section: Genetic Clustersmentioning

confidence: 83%

Developments in autonomic research: a review of the latest literature

Macefield

2009

Clin Auton Res

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“…Therefore, our case could represent a unique variant of HSAN type IV without mental retardation. [25] Due to lack of availability of genetic tests, mutational studies could not be done in our case. The present case history and clinical images illustrate that HSAN type IV, rarely seen in pediatric population, is one of the most debilitating neuropathies of childhood with a high morbidity and a shortened life span.…”

Section: Discussionmentioning

confidence: 99%

“…[23] We present clinical and nerve biopsy images of a 13-year-old boy with classical manifestations of CIPA.…”

Section: Introductionmentioning

confidence: 99%

A case of hereditary sensory autonomic neuropathy type IV

Prashanth

Kamate

2012

Ann Indian Acad Neurol

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Hereditary sensory autonomic neuropathy type IV (HSAN -IV), also known as congenital insensitivity to pain with anhidrosis, is a very rare condition that presents in infancy with anhidrosis, absence of pain sensation and self -mutilation. Developmental delay and mental retardation are usually present. Ultrastructural study of the peripheral nerves demonstrates loss of the unmyelinated and small myelinated fibers. We here report a 8 year -old boy with HSAN IV with typical clinical features where the diagnosis was supported by nerve biopsy findings. However, our case was unusual since mental development was normal.

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“…So far, a total of 62 different mutations of the NTRK1 gene have been reported in patients with CIPA (Greco et al, 2000;Miura et al, 2000b;Shatzky et al, 2000;Bodzioch et al, 2001;Indo, 2001;Indo et al, 2001;Mardy et al, 2001;Miranda et al, 2002;Bonkowsky et al, 2003;Guo et al, 2004;Huehne et al, 2008;Suriu et al, 2009;Lee et al, 2009;Lin et al, 2010). TKD of the NTRK1 protein is located in the codons from 501 to 796, which is approximately 37% of the full length of the TKD protein.…”

Section: Discussionmentioning

confidence: 99%

Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

Li¹,

Liang²,

Sun³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. Congenital insensitivity to pain with anhidrosis (CIPA; MIM 256800) is a rare autosomal recessive disorder characterized by absence of reaction to noxious stimuli, recurrent episodes of fever, anhidrosis, and mental retardation. It is caused by mutations in the gene coding for neurotrophic tyrosine kinase receptor type 1 (NTRK1; MIM# 191315). We screened two Chinese CIPA cases for mutations in the NTRK1 gene and examined their phenotype. Two novel mutations of the NTRK1 gene and two known mutations were identified. Including our two novel mutations, there are now 62 different NTRK1 gene mutations reported in patients with CIPA. We find that a combination of two null alleles usually leads to the severe phenotype, while the mild form of the CIPA disease is associated with at least one mild allele. Thirty-four among the 62 mutations (55%) are located within the tyrosine kinase domain of the NTRK1 protein. We concluded that the tyrosine kinase domain is a hot spot for mutations.

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Skoura – a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene

Cited by 14 publications

References 37 publications

Developments in autonomic research: a review of the latest literature

Developments in autonomic research: a review of the latest literature

A case of hereditary sensory autonomic neuropathy type IV

Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis

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