Accurate Diagnosis of a Homozygous G1138A Mutation in the Fibroblast Growth Factor Receptor 3 Gene Responsible for Achondroplasia

Şatıroğlu-Tufan, N. Lale; Tufan, A. Çevik; Semerci, C. Nur; Bağcı, Hüseyin

doi:10.1620/tjem.208.103

Cited by 7 publications

(3 citation statements)

References 9 publications

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“…Achondroplasia was the first genetic disorder that was hypothesized to have a paternal age component. Sporadic cases of achondroplasia and other dominant genetic disorders have been associated with advanced paternal age, suggesting that these mutations occur preferentially during spermatogenesis [9,10]. Diagnosis of achondroplasia is based on clinical findings, radiographic features and genetic test results [11].…”

Section: Discussionmentioning

confidence: 99%

“…Additional FGFR3 mutations were subsequently detected in thanatophoric dysplasia, hypochondroplasia and other disorders whose clinical phenotypes resemble achondroplasia. More than 97% of achondroplasia have a G to A point mutation at nucleotide 1138 of the FGFR3 "c.1138G>A" while approximately 1% have a G to C point mutation at the same site "c.1138G>C" [4].…”

Section: Introductionmentioning

confidence: 99%

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Utility of Adoption a Molecular Method for Diagnosis of Short Limb Dwarfism

Eid¹,

Al-Haggar²,

Nour³

2017

Gene Technol

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Utility of Adoption a Molecular Method for Diagnosis of Short Limb Dwarfism

Eid¹,

Al-Haggar²,

Nour³

2017

Gene Technol

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“…Both pathogenic variants, mapped on chromosome 4, result in the same glycine to arginine substitution in the FGFR3 protein (p.Gly380Arg) [3,[7][8][9][10][11]. These mutations activate the FGFR3 receptor in the inhibition of chondrocyte proliferation with subsequent growth restriction and impaired endochondral bone formation [12]. De novo mutations account for most cases (80%) [13], and homozygosity occurrence has been reported seldomly to be compatible with life [14,15].…”

Section: Introductionmentioning

confidence: 99%

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review

Sforza

Margiotta

Giorgio

et al. 2023

Genes

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Achondroplasia is an autosomal dominant genetic disease representing the most common form of human skeletal dysplasia: almost all individuals with achondroplasia have identifiable mutations in the fibroblast growth factor receptor type 3 (FGFR3) gene. The cardinal features of this condition and its inheritance have been well-established, but the occurrence of feeding and nutritional complications has received little prominence. In infancy, the presence of floppiness and neurological injury due to foramen magnum stenosis may impair the feeding function of a newborn with achondroplasia. Along with growth, the optimal development of feeding skills may be affected by variable interactions between midface hypoplasia, sleep apnea disturbance, and structural anomalies. Anterior open bite, prognathic mandible, retrognathic maxilla, and relative macroglossia may adversely impact masticatory and respiratory functions. Independence during mealtimes in achondroplasia is usually achieved later than peers. Early supervision of nutritional intake should proceed into adolescence and adulthood because of the increased risk of obesity and respiratory problems and their resulting sequelae. Due to the multisystem involvement, oral motor dysfunction, nutrition, and gastrointestinal issues require special attention and personalized management to facilitate optimal outcomes, especially because of the novel therapeutic options in achondroplasia, which could alter the progression of this rare disease.

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Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality

2016

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Lethal skeletal dysplasias can be diagnosed by prenatal ultrasound (US) using several sonographic parameters. Degree of femoral shortening, lung volumes, femur length to abdominal circumference ratio, and chest circumference to abdominal circumference ratio are the most sensitive and specific predictors. Although there are more than 450 different skeletal dysplasias, only a few are lethal in the perinatal period. We review current fetal US literature and present an updated algorithmic approach to first establish lethality and, second, evaluate for hallmark sonographic features to help determine a specific diagnosis.

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Accurate Diagnosis of a Homozygous G1138A Mutation in the Fibroblast Growth Factor Receptor 3 Gene Responsible for Achondroplasia

Cited by 7 publications

References 9 publications

Utility of Adoption a Molecular Method for Diagnosis of Short Limb Dwarfism

Utility of Adoption a Molecular Method for Diagnosis of Short Limb Dwarfism

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review

Evaluating skeletal dysplasias on prenatal ultrasound: an emphasis on predicting lethality

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