Advertisement

Topics

Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype.

08:00 EDT 10th April 2019 | BioPortfolio

Summary of "Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype."

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease caused by biallelic mutations in GALNS gene and characterized by progressive skeletal deformities with short stature. The aim of this study was to evaluate the genotype, longitudinal height measurement and clinical features of MPS IVA patients. Thirty-two patients from 22 families were enrolled. The ages of patients at diagnosis ranged from two months to 18 years of age, and followed up for three to twenty years. They were classified as severe and attenuated form (intermediate and mild) according to their height measurements. The mean height standard deviation scores (SDS) for Turkish standards at 0-3, 5 and 10 years of ages were found to be -1.1, -4.2 and -7.3 respectively in patients with severe phenotype, while they were +0.4, -1.5 and -3 for intermediate phenotype. Patients with severe form reached a mean final height of -8.5 SDS, and mild phenotype -3.6 SDS. The most common initial and current symptoms in the patients with the severe phenotype were pectus carinatus and/or kyphosis deformities which occurred between 5 months and 3 years of age, and genu valgum deformity which developed after 3 years of age. However, kyphoscoliosis was the most common initial and current findings in the attenuated phenotype. Although, initial symptoms appeared in early childhood in the intermediate phenotype, similar to the severe phenotype, the clinical findings progressed slowly and genu valgum deformity did not develop. In patients with mild phenotype, the onset of symptoms was after 5 years of age. In conclusion, this study provides significant insights into the initial and follow-up clinical features and height values that contribute to the differential diagnosis of the severe and intermediate phenotypes in early childhood. Eleven mutations in GALNS gene in which one of them is novel (c.416G>A) were associated with the severe phenotype and three mutations (c.1038C>A, c.850T>G, c.752G>A) lead to the attenuated phenotype.

Affiliation

Journal Details

This article was published in the following journal.

Name: Gene
ISSN: 1879-0038
Pages:

Links

DeepDyve research library

PubMed Articles [39218 Associated PubMed Articles listed on BioPortfolio]

Mutation analysis and pathogenicity identification of Mucopolysaccharidosis type IVA in 8 south China families.

Mucopolysaccharidosis type IVA (MPS IVA) is a rare autosomal recessive lysosomal storage disorder caused by GALNS gene mutation. The aim of our study is to detect pathogenic variants for patients susp...

A novel mutation of SGSH and clinical features analysis of mucopolysaccharidosis type IIIA.

The aim of this study was to analyze the clinical and imaging features of a pediatric patient with mucopolysaccharidosis type IIIA (MPS IIIA) and a novel mutation of the N-sulfoglucosamine sulfohydrol...

Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls.

Mucopolysaccharidosis type VI (MPS VI) is a clinically heterogeneous lysosomal disease, which can be divided into 2 main categories on the basis of age of onset and severity of symptoms. The diagnosis...

A new case confirming and expanding the phenotype spectrum of ADAT3-related intellectual disability syndrome.

The present study describes two patients with clinical diagnosis of ID, from a consanguineous family in Israel. Whole exome sequencing identified a homozygous missense mutation in the ADAT3 gene. The ...

International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.

Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate o...

Clinical Trials [6560 Associated Clinical Trials listed on BioPortfolio]

Characterization and Differential Diagnosis of Vertebral Osteomyelitis

Vertebral osteomyelitis is a uncommon disease that can lead to neurologic deficits if not diagnosed in time. The etiologies of vertebral osteomyelitis include pyogenic bacteria, M. tubercu...

Study of rhASB in Patients With Mucopolysaccharidosis VI

The purpose of this study is to evaluate the long-term efficacy and safety of rhASB treatment in patients with Mucopolysaccharidosis VI.

Mutation Scores and Differential Protein Evaluating Efficacy in Adjuvant Chemotherapy in HER2(-) Luminal B Breast Cancer

We plan to carry out a prospective, randomized, open phase III clinical trial which sponsored by the Tianjin Medical University Cancer Hospital and Institute. The primary aim is to evaluat...

A Phase I/II Study of JR-141 in Patients With Mucopolysaccharidosis Type II

The purpose of this study in patients with mucopolysaccharidosis type II (MPS II) is below, - to collect the safety information of JR-141 - to evaluate the plasma pharmacokinetics ...

A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

The purpose of this multicenter, multinational, longitudinal study is to quantify the progression of MPS IIIB over time and to correlate changes in clinical features of the disease, in par...

Medical and Biotech [MESH] Definitions

Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.

Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.

Mucopolysaccharidosis with excessive chondroitin sulfate B in urine, characterized by dwarfism and deafness. It is caused by a deficiency of N-acetylgalactosamine-4-sulfatase (arylsulfatase B).

A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)

Congenital syndrome characterized by a spectrum of malformations including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency and HYPOCALCEMIA. Other features include defects in the outflow tract of the HEART and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the TBX1 gene.

Advertisement
Quick Search
Advertisement
Advertisement

 


DeepDyve research library

Relevant Topics

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...

Pediatrics
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...


Searches Linking to this Article