ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.
Clin Genet
; 93(1): 169-172, 2018 Jan.
Article
en En
| MEDLINE
| ID: mdl-28471035
ABSTRACT
Hereditary sensory and autonomic neuropathies (HSAN) type II are characterized by autosomal recessive inheritance, onset at birth and self-mutilating behavior. Here, we described a new patient with congenital insensitivity to pain, sensory neuropathy, acromutilation, and spastic paraplegia. Whole-exome sequencing showed a homozygous frameshift variant c.[577_580del], p.(Lys193Phefs*37) in ARL6IP1. The protein harbors reticulon-like short hairpin transmembrane domains and has a role in endoplasmic reticulum shaping. The variant causes an additional C-terminus hydrophobic domain which could disrupt its function. ARL6IP1 interacts with atlastin-1 responsible for SPG3A and HSAN type ID. This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Paraplejía
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Neuropatías Hereditarias Sensoriales y Autónomas
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Insensibilidad Congénita al Dolor
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Predisposición Genética a la Enfermedad
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Proteínas Adaptadoras Transductoras de Señales
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Proteínas de la Membrana
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Mutación
Tipo de estudio:
Etiology_studies
Límite:
Child, preschool
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Female
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Humans
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Male
Idioma:
En
Año:
2018
Tipo del documento:
Article