SLC26A2 Gene Mutation - Neonatal Disorders

What is the SLC26A2 Gene?

The SLC26A2 gene encodes a protein known as a sulfate transporter, which is crucial for cartilage formation and skeletal development. It is located on chromosome 5 and is responsible for the transport of sulfate ions into cells, which is necessary for the synthesis of proteoglycans in cartilage.

What Conditions are Associated with SLC26A2 Gene Mutations?

Mutations in the SLC26A2 gene are linked to a group of disorders known as skeletal dysplasias, including diastrophic dysplasia, achondrogenesis type 1B, and atelosteogenesis type 2. These conditions are characterized by abnormal bone and cartilage development, leading to short stature, joint deformities, and other skeletal abnormalities.

How are SLC26A2 Gene Mutations Inherited?

The disorders caused by SLC26A2 gene mutations are inherited in an autosomal recessive manner. This means that an affected child must receive one defective gene from each parent. Parents who are carriers of the mutation typically do not show symptoms but have a 25% chance of having an affected child with each pregnancy.

What are the Symptoms of SLC26A2 Gene Mutation Disorders?

The symptoms can vary significantly depending on the specific disorder. Common symptoms include:

Short stature
Joint deformities
Spinal abnormalities
Clubfoot
Restricted joint mobility
Severe cases may present with respiratory difficulties

How is the Diagnosis Made?

Diagnosis typically involves a combination of clinical evaluation, radiographic findings, and genetic testing. Prenatal diagnosis is possible if there is a known family history of the disorder. Genetic testing can confirm the presence of mutations in the SLC26A2 gene.

What Treatment Options are Available?

There is no cure for disorders caused by SLC26A2 gene mutations, but treatment focuses on managing symptoms and improving quality of life. This may include:

Physical therapy to improve mobility
Orthopedic surgery to correct skeletal deformities
Respiratory support for severe cases
Regular monitoring by a multidisciplinary team

What is the Prognosis for Children with SLC26A2 Gene Mutations?

The prognosis varies depending on the severity of the condition. Some children may have relatively mild symptoms and lead independent lives, while others with more severe forms may have significant health challenges. Early intervention and supportive care are crucial in improving outcomes.

What Research is Being Conducted?

Ongoing research aims to better understand the molecular mechanisms underlying these disorders and to develop potential therapies. Advances in gene therapy, stem cell research, and other innovative treatments hold promise for future interventions.

Relevant Publications

Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.

Issue Release: 2019

Phenotypic characterization of Slc26a2 mutant mice reveals a multifactorial etiology of spondylolysis.

Issue Release: 2019

Two unrelated pedigrees with achondrogenesis type 1b carrying a Japan-specific pathogenic variant in SLC26A2.

Issue Release: 2019

Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.

Issue Release: 2018

Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus.

Issue Release: 2018

Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes.

Issue Release: 2018

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.

Issue Release: 2015

Multiple epiphyseal dysplasia.

Issue Release: 2015

A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.

Issue Release: 2013

Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed.

Issue Release: 2012

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Issue Release: 2011

Newborn hearing concurrent gene screening can improve care for hearing loss: a study on 14,913 Chinese newborns.

Issue Release: 2011

Pendrin function and regulation in Xenopus oocytes.

Issue Release: 2011

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.

Issue Release: 2008

Insights from a transgenic mouse model on the role of SLC26A2 in health and disease.

Issue Release: 2006

Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation.

Issue Release: 2004

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.

Issue Release: 2003

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.

Issue Release: 2002

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.

Issue Release: 2001

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