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.
Subject(s)
Adaptor Proteins, Signal Transducing/genetics , Genetic Predisposition to Disease/genetics , Hereditary Sensory and Autonomic Neuropathies/genetics , Membrane Proteins/genetics , Mutation , Pain Insensitivity, Congenital/genetics , Paraplegia/genetics , Amino Acid Sequence , Base Sequence , Child, Preschool , Female , Homozygote , Humans , Male , Pedigree , Exome Sequencing/methodsSubject(s)
Abnormalities, Multiple/genetics , Bone Morphogenetic Proteins/genetics , Fingers/abnormalities , Hip/abnormalities , Mutation , Tooth Abnormalities/pathology , Abnormalities, Multiple/pathology , Child , DNA Mutational Analysis , Family Health , Female , Growth Differentiation Factor 5 , Hand Deformities, Congenital/pathology , Humans , Male , PedigreeABSTRACT
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.