The prevalence of pendred syndrome has been estimated to be between 7. Not everyone with pendred syndrome, however, has an abnormal cochlea. Pendred syndrome occurs in an estimated onethird of all cases of eva2 and is an autosomalrecessive genetic disorder, meaning each parent must be a genetic carrier. Finding leads to better understanding of deafness december 1997. Epidemiology it is considered the most common form of syndromic hearing loss and accounts for upwar.
For most autosomal recessive conditions, a person must have 2 changed mutated copies of the responsible gene in each cell in order to have the condition. Whole exome sequencing was performed on 2 sisters with pds and their unaffected parents. The documents contained in this web site are presented for information purposes only. Pdf on jun 4, 2010, ali saneimoghaddam mrcs research fellow and others published an interesting case of pendred syndrome find, read and cite all.
Usher syndrome type ii autosomal recessive bilateral usually present at birth sensorineural pigmentary changes of iris colored part of eye,hair, skin usually profound most patients with waardenburg syndrome have white forelock front part of hair or have gray hair by the age of 30 waardenburg syndrome autosomal dominant most common type of. 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. Nov 24, 2014 if you have problems viewing pdf files, download the latest version of adobe reader. Mar 02, 2016 pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in iodide organification, which may be associated. Pendred syndrome is a disorder typically associated with hearing loss and a thyroid condition called a goiter. Pendred syndrome occurs in an estimated onethird of people who have eva2 and hearing loss. Dec 01, 2014 pendred syndrome is inherited in an autosomal recessive manner. Pdf an interesting case of pendred syndrome researchgate. Pendred syndrome is characterized by a congenital prebirth nonprogressive, severetoprofound sensorineural hearing loss which is frequently coupled with a late childhood or early adult onset of goiter enlargement of the thyroid gland. Waardenburg syndrome hearing loss syndromes hearing loss syndromes hearing loss syndromes. Gaucher types 2 and 3 affect the body and the brain. Lifethreatening metabolic alkalosis in pendred syndrome. Pendred syndrome goitre and sensorineural hearing loss maps to chromosome 7 in the region containing the nonsyndromic deafness gene dfnb4.
Since both cochlear and thyroid pathology are required to secure the diagnosis, it is unclear. In many cases, significant hearing loss is present at birth. A second characteristic of pendred syndrome is an enlarged vestibular aqueduct see igure. Pendred syndrome ps is an autossomal recessive disorder characterized by sensorineural.
Pendred syndrome genetic and rare diseases information. Pendred syndrome is an autosomal recessive disorder defined by sensorineural deafness, goiter and. Pendred syndrome description, causes and risk factors. The amount of hearing loss varies among affected people. Case studies l j betts case study cobrey farms case study new case study 1 case study new case study 2 case study our previous work. Pendred syndrome can make the thyroid gland grow larger. Norman pendred doesnt operate a one size fits all system for our clients. Pendred syndrome is a common form of syndromic deafness. The slc26a4 gene provides instructions for making a protein called pendrin. Digenic inheritance of mutations in epha2 and slc26a4 in. Pendred syndrome is a condition usually characterized by sensorineural hearing loss in both ears bilateral and euthyroid goiter enlargement of the thyroid gland with normal thyroid gland function. Sep 15, 2009 pendred syndrome first described in 1896 phenotype. Eva can also be associated with branchiootorenal syndrome, which affects the anatomy of the ears, kidney, and neck.
A goiter is an enlargement of the thyroid gland, which is a butterflyshaped organ at the base of the neck that produces hormones. A perchlorate discharge test documents delayed organification of iodine by. 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. Pendred syndrome is a condition usually characterized by sensorineural. The thyroid plays a major role in how the body uses energy from food. Enlarged vestibular aqueduct eva is one of the most commonly identified inner ear malformations in hearing loss patients including pendred syndrome. Enable javascript to view the expandcollapse boxes. This protein transports negatively charged particles ions, including chloride, iodide, and bicarbonate, across cell membranes. To present a clinical case of pendred syndrome, a rare pathology in children that includes congenital deafness and goiter.
Hearing loss associated with pendred syndrome is usually progressive. Pendred syndrome is an inherited disorder leading to bilateral sensorineural hearing loss. Pendred syndrome medigoo health medical tests and free. Pendred syndrome is an autosomal recessively inherited disorder characterized by a euthyroid goiter associated with sensorineural hearing loss. In this study, we describing the possible pds causal mutations in a malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. Pendred syndrome also can affect the vestibular system, which controls balance. The combined occurrence of hearing loss, temporal bone abnormalities, and thyroid dysfunction define the slc26a4related disorder, pendred syndrome, which represents the most common syndromic form of deafness. Goiterdeafness syndrome, thyroid hormone organification defect iib.
Carriers typically do not have signs or symptoms of the condition. Importantly, pendred syndrome accounts for about 410% of all cases of hereditary deafness. The syndrome is named after vaughan pendred, the physician who first described individuals with the disorder. Pendred syndrome national library of medicine pubmed health. Pendreds syndrome fulltext european neurology 2007, vol. It also can affect the thyroid gland and sometimes may affect a persons balance. The pendred syndrome phenotype includes bilateral sensorineural hearing loss, which is usually severe to profound at birth, temporal bone abnormalities, vestibular abnormalities, and thyroid dysfunction, which usually.
Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin encoded by slc26a4, which transports chloride and iodide in the inner ear and thyroid respectively. Pendred syndrome pds is one of the most frequent forms of syndromic genetic deafness. Pendred syndrome was first recognized by vaughan pendred, a british physician, in 1896 1. Pendred syndrome is an autosomal recessive form of hearing loss due to mutations in the slc26a4 gene on chromosome 7q31 that presents with other features including goitre, enlarged vestibular aqueducts eva and mondini malformation. Pendred syndrome is a genetic disorder leading to a congenital bilateral sensorineural hearing loss, with occasional goitre and hypothyroidism. It is named after doctor vaughan pendred, an english doctor, described the condition in an irish family in 1896.
Horizon conditions list condition gene autosomal recessive xlinked screening recommendations panel availability acog acmg victor center h 4 h 14 h 27 h 106 h 274 3betahydroxysteroid dehydrogenase type ii deficiency hsd3b2. Pendred syndrome is a genetic disorder that causes early hearing loss in children. Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing impairment, presence of goiter, and a partial defect in. Penderds syndrome definition of penderds syndrome by. Scientists at the national human genome research institute at the national institutes of health, using the recently completed physical map of human chromosome 7, have identified an altered gene thought to cause as many as ten percent of hereditary deafness cases.
It also can affect the thyroid gland and sometimes creates problems with balance. Pdf pendred syndrome in a newborn with neck swelling. For language access assistance, contact the ncats public information officer. Slc26a4 pds gene sequencing for pendred syndrome partners. Other names known as deafness with goiter and goiterdeafness syndrome, pendred syndrome is an inherited condition that affects the bodys ability to make a protein called pendrin. Pds codes for a 780 aa protein ie pendrin, functions as an ion transporter autosomal. Pendred syndrome is an autosomal recessive disorder traditionally defined by sensorineural deafness, goiter, and a partial. Pendred syndrome, the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement goiter everett et al. Mar 10, 2011 do mutations of the pendred syndrome gene, slc26a4, confer resistance to asthma and hypertension. If a goiter develops in a person with pendred syndrome, it usually forms between late childhood and. Pendred syndrome deafness with goiter is the most common syndromic form of deafness, accounting for up to 7. Pendreds syndrome is an autosomal recessive disorder first described in 1896 and. In children, the thyroid is important for normal growth and development.
Exome sequencing identifies slc26a4, gjb2, scarb2 and duox2. Children who are born with pendred syndrome may begin to lose their hearing at birth or by the time they are three years old. Clinical and molecular characteristics of pendred syndrome em. Ear disorders what is pendreds syndrome congenital. In some people symptoms can be seen in early childhood, while others are diagnosed as senior citizens. The vestibular aqueduct is a bony canal that runs from the vestibule a part of the inner ear between the cochlea and the.
Hearing impairments national association of special. Pendrin is produced in several organs and tissues, particularly the inner ear and thyroid gland. Goiter thyroid enlargement is seen in 20% of cases and hypothyroidism can occasionally occur. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree.
Pendred syndrome pendred syndrome is a genetic disorder that causes early hearing loss in children. Adapting health education material for deaf audiences. Eva can be associated with branchiootorenal syndrome, which affects the anatomy of the ears, kidney, and neck. Molecular analysis of the pds gene in pendred syndrome. If a goiter develops in a person with pendred syndrome, it usually forms between late childhood and early adulthood. The full text of this article is available in pdf format. Pendred syndrome is inherited in an autosomal recessive manner. Pendred syndrome is a form of syndromic deafness, which means that there is an additional medical issue. The children of a person with pendred syndrome will definitely be carriers of the condition. Preschool female 5 years and 4 months of age, whose mother refers disease of 3 months of evolution characterized by progressive increase in volume of the anterior neck, without redness, heat, or pain. There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism.
Mar 12, 2020 enlarged vestibular aqueduct eva is one of the most commonly identified inner ear malformations in hearing loss patients including pendred syndrome. Pendrin is responsible for transporting negatively charged particles, into and out of cells. Pdf pendred syndrome100 years of underascertainment. Pendreds syndrome is a major cause of congenital deafness. Pendred syndrome, also termed goiterdeafness syndrome, is a relatively rare recessive genetic disease, which is characterized by congenital deafness and progressive clinical enlargement of a goiter. Carriers typically do not have any signs or symptoms. The syndrome is named after vaughan pendred, the physician who irst described people with the disorder. Patients inheriting this autosomalrecessive disorder have variable degrees of deafness at birth and typically develop goiter in the second decade. The thyroid is a small, butterflyshaped gland in the front of the neck, just above the collarbones. Pendreds syndrome, hereditary metabolic condition that is characterized by deafness and defective incorporation of iodine into thyroid hormone, resulting in goitre or enlargement of the thyroid gland. For a general phenotypic description and a discussion of genetic heterogeneity of thyroid. At least 5% of the total cases with congenital deafness are pds. Pendred syndrome is the most common form of syndromic deafness, accounting for approximately 510% of hereditary hearing loss.
Treatment for pendred syndrome addresses hearing loss early in life, including hearing aids for children with the condition. Children of a person with pendred syndrome have a chance to have the condition if the other parent is a carrier. Pendred syndrome is an autosomal recessive condition classically characterized by deafness and goitre. Coyle b, coffey r, armour ja, gausden e, hochberg z, grossman a, britton k, pembrey m, reardon w, trembath r. Pendred syndrome in a girl and cooccurrence of pendred. The syndrome is named after vaughan pendred, the physician who first described people with the disorder. Thus, it may be the most frequent cause of syndromic deafness. Pendred syndrome in a large consanguineous brazilian. One changed copy of the responsible gene is usually inherited from each parent. People with pendred syndrome may need to visit an endocrinologist, who is a specially trained doctor familiar with diseases and disorders that involve the endocrine system, including the thyroid gland. The estimated frequency of pendred syndrome related hearing loss is 7%.
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