FGFR3 Gene Mutation (Gly380Arg) With Achondroplasia and i(21q) Down Syndrome

Chen, Harold; Mu, Xinjie; Sonoda, Toru; Kim, Kyoung Chang; DAILEY, KATHY; Martínez, José Enrique; Tuck‐Muller, Cathy M.; Wertelecki, Wladimir

doi:10.1097/00007611-200093060-00019

Cited by 3 publications

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“…Down's syndrome and achondroplasia is an extremely rare association and only a few cases have been reported [1][2][3][4][5] ; however our case is the first report of a child having both disorders being born from a mother with achondroplasia.…”

Section: Discussionmentioning

confidence: 85%

“…the association between achondroplasia and Down's syndrome was reported for the first time in 1970 1 , and since then only four other were reported [2][3][4][5] , but in all achondroplasia occurred as a "de novo" mutation. Achondroplasia is the most common form of human dwarfism and more than 85% occur as a "de novo" dominant mutation 6,7 .…”

Section: Introductionmentioning

confidence: 99%

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Achondroplasia and Down's syndrome – case report of a rare association

Santos

Silva

Pinto

2011

International Medical Review on Down Syndrome

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The association of achondroplasia and Down's syndrome is very rare and only five cases have been reported in the literature so far. these two genetic alterations have overlapping features such as short stature, developmental delay or hypotonia that complicate management and follow up. We report the case of a girl that is unique since she was born from a mother with achondroplasia and a healthy father. Achondroplasia was dominantly inherited from the mother but at birth she had features of Down's syndrome as well, confirmed later by kariotype. We review her evolution regarding physical health, cognitive problems and adaptive behavior during her eight years of life. To our knowledge this is the first report of the combination of both disorders in which the achondroplasia was inherited and not a "de novo" mutation. We address the problems resulting from the additional burden of having two disorders, and how they can be improved, aiming to help others in the future to deal with these cases. © 2011 Fundació Catalana Síndrome de Down. Published by Elsevier España, S.L. All rights reserved.* Corresponding author. E-mail: sandra.santos.ped@gmail.com (S. Santos). PALABRAS CLAVEAcondroplasia; Síndrome de Down; trastorno del desarrollo Acondroplasia y síndrome de Down: historia clínica de una asociación poco común Resumen La asociación entre acondroplasia y síndrome de Down es muy poco común y hasta hoy solamente se han descrito cinco casos en la bibliografía. Estas dos alteraciones genéticas tienen características que coinciden, como la baja estatura, el retraso en el desarrollo o la hipotonía, que complican el tratamiento y el seguimiento. Presentamos el caso de una niña que es único, ya que es hija de una madre con acondroplasia y un padre sano. La acondroplasia la heredó predominantemente de la madre, aunque en el nacimiento también presentó rasgos de síndrome de Down, confirmados Achondroplasia and Down's syndrome -case report of a rare association 27

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Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

Achondroplasia and Down's syndrome – case report of a rare association

Santos

Silva

Pinto

2011

International Medical Review on Down Syndrome

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“…The disorder is caused by mutation of the gene for fibroblast growth factor receptor 3 (FGFR3) in the transmembrane domain. Molecular techniques for FGFR3 gene mutation screening were applied in only three patients (Chen et al, 2000;Dabir et al, 2008; and the present case). In all three, a single copy of the most common G1138A mutation was found: a G-to-A transition at nucleotide 1138, resulting in the substitution of glycine by arginine at position 380 (Gly380Arg) of the mature protein.…”

Section: Discussionmentioning

confidence: 85%

“…The role of advanced paternal age in the incidence of achondroplasia and some other monogenic diseases, such as osteogenesis imperfecta and Apert, Crouzon, and Pfeiffer syndromes, depends on the hypothesis that spontaneous mutations accumulate because of continuous cell division during spermatogenesis (Astolfi et al, 2004). We considered these associations and note that the maternal and paternal ages were <35 years in only two cases (Sommer and Eaton, 1970;Chen et al, 2000). A multidisciplinary supervisory team to provide anticipatory care and management of his health and educational difficulties continues to monitor this child.…”

Section: Discussionmentioning

confidence: 99%

Co‐occurrence of achondroplasia and Down syndrome: Genotype/phenotype association

Moreira

Matos

Schiper

et al. 2010

Birth Defects Research

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“…There have been 4 cases of Trisomy 21 and achondroplasia reported previously [1][2][3][4] . Achondroplasia and Down syndrome have distinct but also shared clinical features [1] .…”

Section: Introductionmentioning

confidence: 99%

Down Syndrome, Achondroplasia and Tetralogy of Fallot

Dabir

McCrossan²,

Sweeney³

et al. 2008

Neonatology

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This paper describes a female infant with achondroplasia, Down syndrome and tetralogy of Fallot. Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively. The clinical course was complicated by pulmonary hypoplasia and subsequent intractable respiratory failure secondary to the combination of congenital conditions, which resulted in the patient’s death at 5 months.

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FGFR3 Gene Mutation (Gly380Arg) With Achondroplasia and i(21q) Down Syndrome

Cited by 3 publications

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Achondroplasia and Down's syndrome – case report of a rare association

Achondroplasia and Down's syndrome – case report of a rare association

Co‐occurrence of achondroplasia and Down syndrome: Genotype/phenotype association

Down Syndrome, Achondroplasia and Tetralogy of Fallot

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