Hereditary Sensory and Autonomic Neuropathy Type VIII

Kusumesh, Rakhi; Ambastha, Anita; Singh, Vivek; Singh, Ankita

doi:10.4103/idoj.idoj_427_21

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…The main characteristic of this disorder is congenital insensitivity to pain that is associated with ulceration in the tongue, lips, fingers, and other organs. 2 , 3 Due to the wide range of abnormalities and overlap of clinical symptoms that are associated with different pathogenic mutations on various genes, diagnosis of HSAN subtypes is difficult, and molecular genetic analysis can be helpful.…”

Section: Introductionmentioning

confidence: 99%

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII

Ebrahimi,

Bolhassani,

Zarei

et al. 2024

Arch Iran Med

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Section: Introductionmentioning

confidence: 99%

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII

Ebrahimi,

Bolhassani,

Zarei

et al. 2024

Arch Iran Med

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Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review

Cong³

et al. 2023

Front. Genet.

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Background:PRDM12 is a newly discovered gene responsible for congenital insensitivity to pain (CIP). Its clinical manifestations are various and not widely known.Methods: The clinical data of two infants diagnosed with CIP associated with PRDM12 mutation were collected. A literature review was performed, and the clinical characteristics of 20 cases diagnosed with a mutation of PRDM12 were summarized and analyzed.Results: Two patients had pain insensitivity, tongue and lip defects, and corneal ulcers. The genomic analysis results showed that variants of PRDM12 were detected in the two families. The case 1 patient carried heterozygous variations of c.682+1G > A and c.502C > T (p.R168C), which were inherited from her father and mother, respectively. We enrolled 22 patients diagnosed with CIP through a literature review together with our cases. There were 16 male (72.7%) and 6 female (27.3%) patients. The age of onset ranged from 6 months to 57 years. The prevalence of clinic manifestation was 14 cases with insensitivity to pain (63.6%), 19 cases with self-mutilation behaviors (86.4%), 11 cases with tongue and lip defects (50%), 5 cases with mid-facial lesions (22.7%), 6 cases with distal phalanx injury (27.3%), 11 cases of recurrent infection (50%), 3 cases (13.6%) with anhidrosis, and 5 cases (22.7%) with global developmental delay. The prevalence of ocular symptoms was 11 cases (50%) with reduced tear secretion, 6 cases (27.3%) with decreased corneal sensitivity, 7 cases (31.8%) with disappeared corneal reflexes, 5.5 cases (25%, 0.5 indicated a single eye) with corneal opacity, 5 cases (22.7%) with corneal ulceration, and 1 case (4.5%) with a corneal scar.Conclusion: The syndrome caused by PRDM12 mutation is a clinically distinct and diagnosable disease that requires joint multidisciplinary management to control the development of the disease and minimize the occurrence of complications.

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Hereditary Sensory and Autonomic Neuropathy Type VIII

Cited by 2 publications

References 5 publications

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII

Identification of a Novel Homozygous Mutation in PRDM12 Gene in a Patient with Hereditary Sensory and Autonomic Neuropathy Type VIII

Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review

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