RESUMO
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.
Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Predisposição Genética para Doença/genética , Neuropatias Hereditárias Sensoriais e Autônomas/genética , Proteínas de Membrana/genética , Mutação , Insensibilidade Congênita à Dor/genética , Paraplegia/genética , Sequência de Aminoácidos , Sequência de Bases , Pré-Escolar , Feminino , Homozigoto , Humanos , Masculino , Linhagem , Sequenciamento do Exoma/métodosAssuntos
Anormalidades Múltiplas/genética , Proteínas Morfogenéticas Ósseas/genética , Dedos/anormalidades , Quadril/anormalidades , Mutação , Anormalidades Dentárias/patologia , Anormalidades Múltiplas/patologia , Criança , Análise Mutacional de DNA , Saúde da Família , Feminino , Fator 5 de Diferenciação de Crescimento , Deformidades Congênitas da Mão/patologia , Humanos , Masculino , LinhagemRESUMO
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.