Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in. The vestibular aqueduct is a bony canal that runs from the vestibule a part of the inner ear between the cochlea and the. Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and. Pendred syndrome genetic and rare diseases information. Pendred syndrome and dfnb4 autosomal recessive deafness slc26a4 gene sequencing pendred syndrome omim 274600 and dfnb4 omim 600791 are autosomal recessive disorders. Pendred syndrome is a result of a defect in the production of the thyroid hormone, which controls the metabolism and helps regulate body growth. Pendred syndrome is a genetic condition that is characterized by hearing loss and an enlarged thyroid, called goiter. The mutation in this gene causes progressive hearing loss in children and affects the thyroid gland resulting in goiter. Full text full text is available as a scanned copy of the original print version.
The amount of hearing loss varies among affected people. Hearing loss in this syndrome is usually congenital i. Pendred syndrome in a large consanguineous brazilian. Pendred syndrome deafness with goiter is the most common syndromic form of deafness, accounting for up to 7. The pendred syndrome specific ipsc line can be used to generate a diseasespecific differentiated tissue in vitro for genetic modification and drug screening.
To present a clinical case of pendred syndrome, a rare pathology in children that includes congenital deafness and goiter. Pendred syndrome is a genetic disorder leading to congenital bilateral both sides sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism decreased thyroid gland function. The children of a person with pendred syndrome will definitely be carriers of the condition. Pendred syndrome is an autosomal recessive disorder that is present when a child receives two copies of a defective slc26a4 gene, one from each parent. The full text of this article is available in pdf format. Get a printable copy pdf file of the complete article 1. Pendred syndrome consists of sensorineural deafness and goiter caused by. This disorder may account for up to 10% of cases of. Carriers typically do not have any signs or symptoms. Pendred syndrome is characterized by congenital sensorineural hearing loss, temporal bone anomalies, and the development of euthyroid goiter in late. Lifethreatening metabolic alkalosis in pendred syndrome. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease.
Researchers have identified more than 150 mutations in the slc26a4 gene in people with pendred syndrome. Coyle b, coffey r, armour ja, gausden e, hochberg z, grossman a, britton k, pembrey m, reardon w, trembath r. Pendred syndrome is a genetic disorder that causes early hearing loss in children. The syndrome is named after vaughan pendred, the physician who first described people with the disorder. Pendred syndrome is a genetic pathological condition which is caused by mutation in gene slc26a4 in chromosome 7. Pds follows an autosomal recessive pattern of inheritance. Eva can be associated with branchiootorenal syndrome. The gene responsible for pendred syndrome pds, an autosomal recessive disease characterized by goiter and congenital sensorineural deafness, has recently been. Pendrin is an anion transporter encoded by the pds pds gene. If a goiter develops in a person with pendred syndrome, it usually forms between late childhood and early adulthood. Pendred syndrome is an autosomalrecessive disorder characterized by congenital sensorineural hearing loss combined with goiter. Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. Children who are born with pendred syndrome may begin to lose their hearing. Ideal sources for wikipedia s health content are defined in the guideline wikipedia.
Pdf on jun 4, 2010, ali saneimoghaddam mrcs research fellow and others published an interesting case of pendred syndrome find, read and cite all. It also can affect the thyroid gland and sometimes may affect a persons balance. Expression of pendrin and the pendred syndrome pds gene. For most autosomal recessive conditions, a person must have 2 changed mutated copies of the. If a goiter develops in a person with pendred syndrome. Pendred syndrome is caused by a mutation in the slc26a4 gene, which causes a defect in the organification of iodine ie, incorporation into thyroid hormone, congenital. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have. In many cases, significant hearing loss is present at birth. Children of a person with pendred syndrome have a chance to have the condition if the other parent is a carrier.
Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital deafness and thyroid goitre. This condition is characterized by enlargement of the thyroid gland called. Intrafamilial variability of the deafness and goiter phenotype in. This article deals with details of pendred syndrome. Links to pubmed are also available for selected references. It also can affect the thyroid gland and sometimes creates problems with balance. Pendred syndrome in the families of children who have the disorder. First described by pendred, in 1896, in two deaf sisters with goiter. Pendred syndrome pds is an autosomal recessive disorder clinically characterized by sensorineural hearing loss and goiter. Pendred syndrome is sometimes characterized by an enlarged thyroid. A goiter is an enlargement of the thyroid gland, which is a butterflyshaped organ at the base of the neck that produces hormones. Google scholarcoyle b, coffey r, armour ja, gausden e, hochberg z, grossman a, britton k, pembrey m, reardon w, trembath r. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. Horizon conditions list condition gene autosomal recessive xlinked screening recommendations panel availability acog acmg victor center h 4 h 14 h 27 h.
Background we have sought to establish the prevalence of goitre within a pendred syndrome ps cohort and to document the course of thyroid disease in this patient. Cureus hoffmanns syndrome secondary to pendred syndrome. Pdf an interesting case of pendred syndrome researchgate. Pendred syndrome ps is the most common cause of syndromic deafness. Pendrin, encoded by the pendred syndrome gene, resides in. The coding region of the pds gene exons 221, including. Hoffmanns syndrome hs is a rare manifestation of hypothyroidism myopathy that presents with weakness, stiffness, and eventually pseudohypertrophy of muscles, especially calf. Named after vaughan pendred 18691946, english doctor who first described the condition in 1896. The thyroid is a small, butterflyshaped gland in the front of the neck, just above the.
In humans, mutations in pds cause the genetic disorder pendred syndrome, which is associated with. Identifying and describing the key imaging features in pendred syndrome. Pendred syndrome occurs in an estimated onethird of people who have eva2 and hearing loss. Pendred syndrome occurs in an estimated onethird of all cases of eva and is an autosomalrecessive genetic disorder, meaning each parent must be a genetic carrier.
Prevalence, age of onset, and natural history of thyroid. A person with one copy of the defective slc26a4 gene is a pendred syndrome. Pendred syndrome is caused by mutations in a putative. Clinical and molecular characteristics of pendred syndrome em.
Pedigree of the family with pendred syndrome caused by a 1197delt in the slc26a4 gene. Pendred syndrome is inherited in an autosomal recessive manner. The mondini dysplasia can occur in cases of pendred syndrome and branchiootorenal syndrome. Pendred syndrome is a condition usually characterized by. Slc26a4 mutations are identified in 80% to 90% of familial cases of pendred syndrome, and in about.
The mondini dysplasia can occur in cases of pendred syndrome and branchiootorenal syndrome and in other syndromes, but can displazia in nonsyndromic deafness. Pendred syndrome is the most common form of syndromic deafness, accounting for approximately 510% of hereditary hearing loss. Pendred syndrome is an autosomal recessively inherited disorder characterized by a euthyroid goiter associated with sensorineural hearing loss. Pendred syndrome and dfnb4 hearing loss slc26a4related pendred syndrome and dfnb4 are inherited conditions characterized by deafness and structural problems with the inner ear.
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