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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene

Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locu... Full description

Journal Title: American journal of human genetics 2005, Vol.77 (1), p.41-53
Main Author: Schwartz, Charles E
Other Authors: May, Melanie M , Carpenter, Nancy J , Rogers, R. Curtis , Martin, Judith , Bialer, Martin G , Ward, Jewell , Sanabria, Javier , Marsa, Silvana , Lewis, James A , Echeverri, Roberto , Lubs, Herbert A , Voeller, Kytja , Simensen, Richard J , Stevenson, Roger E
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: Chicago, IL: Elsevier Inc
ID: ISSN: 0002-9297
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recordid: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1226193
title: Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene
format: Article
creator:
  • Schwartz, Charles E
  • May, Melanie M
  • Carpenter, Nancy J
  • Rogers, R. Curtis
  • Martin, Judith
  • Bialer, Martin G
  • Ward, Jewell
  • Sanabria, Javier
  • Marsa, Silvana
  • Lewis, James A
  • Echeverri, Roberto
  • Lubs, Herbert A
  • Voeller, Kytja
  • Simensen, Richard J
  • Stevenson, Roger E
subjects:
  • Adolescent
  • Adult
  • Aged
  • Articles
  • Biological and medical sciences
  • Child
  • Child, Preschool
  • Chromosomes
  • Chromosomes, Human, X
  • Developmental Disabilities - genetics
  • Female
  • General aspects. Genetic counseling
  • Genetic aspects
  • Genetic disorders
  • Genetics
  • Genetics(clinical)
  • Human genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Medical genetics
  • Medical sciences
  • Mental retardation
  • Mental Retardation, X-Linked - genetics
  • Middle Aged
  • Monocarboxylic Acid Transporters - genetics
  • Muscle Weakness - genetics
  • Mutation
  • Neurons
  • Paraplegia - genetics
  • Pedigree
ispartof: American journal of human genetics, 2005, Vol.77 (1), p.41-53
description: Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutations in the monocarboxylate transporter 8 gene ( MCT8) have been found in each of the six families. One essential function of the protein encoded by this gene appears to be the transport of triiodothyronine into neurons. Abnormal transporter function is reflected in elevated free triiodothyronine and lowered free thyroxine levels in the blood. Infancy and childhood in the Allan-Herndon-Dudley syndrome are marked by hypotonia, weakness, reduced muscle mass, and delay of developmental milestones. Facial manifestations are not distinctive, but the face tends to be elongated with bifrontal narrowing, and the ears are often simply formed or cupped. Some patients have myopathic facies. Generalized weakness is manifested by excessive drooling, forward positioning of the head and neck, failure to ambulate independently, or ataxia in those who do ambulate. Speech is dysarthric or absent altogether. Hypotonia gives way in adult life to spasticity. The hands exhibit dystonic and athetoid posturing and fisting. Cognitive development is severely impaired. No major malformations occur, intrauterine growth is not impaired, and head circumference and genital development are usually normal. Behavior tends to be passive, with little evidence of aggressive or disruptive behavior. Although clinical signs of thyroid dysfunction are usually absent in affected males, the disturbances in blood levels of thyroid hormones suggest the possibility of systematic detection through screening of high-risk populations.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0002-9297
fulltext: fulltext
issn:
  • 0002-9297
  • 1537-6605
url: Link


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titleAllan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene
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creatorSchwartz, Charles E ; May, Melanie M ; Carpenter, Nancy J ; Rogers, R. Curtis ; Martin, Judith ; Bialer, Martin G ; Ward, Jewell ; Sanabria, Javier ; Marsa, Silvana ; Lewis, James A ; Echeverri, Roberto ; Lubs, Herbert A ; Voeller, Kytja ; Simensen, Richard J ; Stevenson, Roger E
creatorcontribSchwartz, Charles E ; May, Melanie M ; Carpenter, Nancy J ; Rogers, R. Curtis ; Martin, Judith ; Bialer, Martin G ; Ward, Jewell ; Sanabria, Javier ; Marsa, Silvana ; Lewis, James A ; Echeverri, Roberto ; Lubs, Herbert A ; Voeller, Kytja ; Simensen, Richard J ; Stevenson, Roger E
descriptionAllan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutations in the monocarboxylate transporter 8 gene ( MCT8) have been found in each of the six families. One essential function of the protein encoded by this gene appears to be the transport of triiodothyronine into neurons. Abnormal transporter function is reflected in elevated free triiodothyronine and lowered free thyroxine levels in the blood. Infancy and childhood in the Allan-Herndon-Dudley syndrome are marked by hypotonia, weakness, reduced muscle mass, and delay of developmental milestones. Facial manifestations are not distinctive, but the face tends to be elongated with bifrontal narrowing, and the ears are often simply formed or cupped. Some patients have myopathic facies. Generalized weakness is manifested by excessive drooling, forward positioning of the head and neck, failure to ambulate independently, or ataxia in those who do ambulate. Speech is dysarthric or absent altogether. Hypotonia gives way in adult life to spasticity. The hands exhibit dystonic and athetoid posturing and fisting. Cognitive development is severely impaired. No major malformations occur, intrauterine growth is not impaired, and head circumference and genital development are usually normal. Behavior tends to be passive, with little evidence of aggressive or disruptive behavior. Although clinical signs of thyroid dysfunction are usually absent in affected males, the disturbances in blood levels of thyroid hormones suggest the possibility of systematic detection through screening of high-risk populations.
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subjectAdolescent ; Adult ; Aged ; Articles ; Biological and medical sciences ; Child ; Child, Preschool ; Chromosomes ; Chromosomes, Human, X ; Developmental Disabilities - genetics ; Female ; General aspects. Genetic counseling ; Genetic aspects ; Genetic disorders ; Genetics ; Genetics(clinical) ; Human genetics ; Humans ; Infant ; Infant, Newborn ; Male ; Medical genetics ; Medical sciences ; Mental retardation ; Mental Retardation, X-Linked - genetics ; Middle Aged ; Monocarboxylic Acid Transporters - genetics ; Muscle Weakness - genetics ; Mutation ; Neurons ; Paraplegia - genetics ; Pedigree
ispartofAmerican journal of human genetics, 2005, Vol.77 (1), p.41-53
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9Lewis, James A
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12Voeller, Kytja
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descriptionAllan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutations in the monocarboxylate transporter 8 gene ( MCT8) have been found in each of the six families. One essential function of the protein encoded by this gene appears to be the transport of triiodothyronine into neurons. Abnormal transporter function is reflected in elevated free triiodothyronine and lowered free thyroxine levels in the blood. Infancy and childhood in the Allan-Herndon-Dudley syndrome are marked by hypotonia, weakness, reduced muscle mass, and delay of developmental milestones. Facial manifestations are not distinctive, but the face tends to be elongated with bifrontal narrowing, and the ears are often simply formed or cupped. Some patients have myopathic facies. Generalized weakness is manifested by excessive drooling, forward positioning of the head and neck, failure to ambulate independently, or ataxia in those who do ambulate. Speech is dysarthric or absent altogether. Hypotonia gives way in adult life to spasticity. The hands exhibit dystonic and athetoid posturing and fisting. Cognitive development is severely impaired. No major malformations occur, intrauterine growth is not impaired, and head circumference and genital development are usually normal. Behavior tends to be passive, with little evidence of aggressive or disruptive behavior. Although clinical signs of thyroid dysfunction are usually absent in affected males, the disturbances in blood levels of thyroid hormones suggest the possibility of systematic detection through screening of high-risk populations.
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abstractAllan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutations in the monocarboxylate transporter 8 gene ( MCT8) have been found in each of the six families. One essential function of the protein encoded by this gene appears to be the transport of triiodothyronine into neurons. Abnormal transporter function is reflected in elevated free triiodothyronine and lowered free thyroxine levels in the blood. Infancy and childhood in the Allan-Herndon-Dudley syndrome are marked by hypotonia, weakness, reduced muscle mass, and delay of developmental milestones. Facial manifestations are not distinctive, but the face tends to be elongated with bifrontal narrowing, and the ears are often simply formed or cupped. Some patients have myopathic facies. Generalized weakness is manifested by excessive drooling, forward positioning of the head and neck, failure to ambulate independently, or ataxia in those who do ambulate. Speech is dysarthric or absent altogether. Hypotonia gives way in adult life to spasticity. The hands exhibit dystonic and athetoid posturing and fisting. Cognitive development is severely impaired. No major malformations occur, intrauterine growth is not impaired, and head circumference and genital development are usually normal. Behavior tends to be passive, with little evidence of aggressive or disruptive behavior. Although clinical signs of thyroid dysfunction are usually absent in affected males, the disturbances in blood levels of thyroid hormones suggest the possibility of systematic detection through screening of high-risk populations.
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