RESUMEN
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.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Predisposición Genética a la Enfermedad/genética , Neuropatías Hereditarias Sensoriales y Autónomas/genética , Proteínas de la Membrana/genética , Mutación , Insensibilidad Congénita al Dolor/genética , Paraplejía/genética , Secuencia de Aminoácidos , Secuencia de Bases , Preescolar , Femenino , Homocigoto , Humanos , Masculino , Linaje , Secuenciación del Exoma/métodosAsunto(s)
Anomalías Múltiples/genética , Proteínas Morfogenéticas Óseas/genética , Dedos/anomalías , Cadera/anomalías , Mutación , Anomalías Dentarias/patología , Anomalías Múltiples/patología , Niño , Análisis Mutacional de ADN , Salud de la Familia , Femenino , Factor 5 de Diferenciación de Crecimiento , Deformidades Congénitas de la Mano/patología , Humanos , Masculino , LinajeRESUMEN
This study evaluated long-term clinical and radiologic results of Dunn's osteotomy carried out in 50 consecutive cases for severe slipped capital femoral epiphysis. The results of all the patients were analyzed with 4 years 6 months of follow-up. The clinical results were very good and good in 90% of the patients and were fair or poor in 10% of the patients. Seven patients had an important complication (total necrosis or chondrolysis), and the clinical evolution was studied. Dunn's procedure seems to be adequate to correct severe slips.