Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p

Francomano, Clalr A.; Luna, Rosa Isela Ortiz De; Hefferon, Timothy; Bellus, Gary A.; Turner, C.; Taylor, Eugene W.; Meyers, Deborah A.; Blanton, Susan H.; Murray, Jeffrey C.; Mclntosh, lain; Hecht, Jacqueline

doi:10.1093/hmg/3.5.787

Cited by 67 publications

(24 citation statements)

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“…The main clinical manifestation is an abnormally large head with a prominent forehead and flat nasal bridge, short upper arms and legs (rhizomelic dwarfism), an unusually prominent abdomen and buttocks, and short hands with fingers that assume a trident or three-pronged position during extension. In 1994, Francomano et al located the pathogenic gene of ACH to chromosome 4p16.3 through genetic linkage analysis (8). Soon after, Shiang et al reported a missense mutation at codon 380 in the transmembrane domain of the FGFR3 gene in patients with ACH (5,6).…”

Section: Discussionmentioning

confidence: 99%

Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report

Liu

Tang

Cheng

et al. 2015

Experimental and Therapeutic Medicine

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Abstract. Achondroplasia (ACH) is a hereditary dwarfism caused by the disturbed proliferation and differentiation of growth plate chondrocytes, followed by impaired endochondral bone growth. ACH is caused by mutations in the gene encoding the transmembrane receptor, fibroblast growth factor receptor 3 (FGFR3). In total, >90% of patients with ACH have a G1138A mutation in the transmembrane domain of the FGFR3 gene. Patients with ACH usually have no growth hormone (GH) deficiency. The current study presents the case of a four-year-old male with clinical manifestations suggestive of ACH, including a large head, prominent forehead, short upper arms and legs, and short hands with fingers assuming a trident position. The patient showed normal responses to GH provocation tests with L-dopa (peak GH concentration, 42.38 ng/ml) and insulin (peak GH concentration, 23.29 ng/ml during hypoglycemia), but a blunted response to a GH provocation test with arginine (peak GH concentration, 7.31 ng/ml). Furthermore, the GH concentration during exercise was low (4.8 ng/ml). Magnetic resonance imaging revealed a decreased pituitary volume. Thyroid function tests and the levels of sex hormones (follicle stimulating hormone, luteinizing hormone, estradiol, prolactin and progesterone), cortisol and adrenocorticotropic hormone were normal. A heterozygous G1138A mutation within the FGFR3 gene was detected, confirming the diagnosis of ACH. Thus, recombinant human GH therapy (0.1 IU/kg/day) was initiated. At the six-month follow-up, the height, arm span-to-height ratio and lower limb length-to-height ratio of the patient had increased, while the head circumference had decreased. The present results corroborate the finding that the G1138A mutation within FGFR3 is the most common ACH-causing mutation in different populations. GH may be beneficial in the treatment of short stature in ACH patients with subnormal GH secretion.

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Section: Discussionmentioning

confidence: 99%

Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report

Liu

Tang

Cheng

et al. 2015

Experimental and Therapeutic Medicine

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“…The gene for achondroplasia was localized to 4p16.3 [2,3]. DNA analysis has revealed that the vast majority of the achondroplasia patients have the same mutation at DNA nucleotide 1138 in the gene encoding fibroblast growth factor receptor 3 "FGFR3".…”

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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“…The prevalence rate for ACH is between 0.5 and 1.5 per 100,000 births [1]. The ACH gene was map ped to the distal area of the short arm of chro mosome 4 (4p 16.3) [7][8][9], Recently the gene mutation responsible for ACH has been identified in the transmem brane domain of the fibroblast growth factor receptor 3 (FGFR3) gene. The cause of ACH is the point mutation at nucleotide 1138 of the cDNA (G -»A transition or G ->C trans version), resulting in the substitution of an arginine residue for a glycine.…”

Section: Introductionmentioning

confidence: 99%

Prenatal Diagnosis of Achondroplasia Using the Nested Polymerase Chain Reaction with Modified Primer Sets

Sawai

Komori²,

Tanaka³

et al. 1996

Fetal Diagn Ther

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Achondroplasia (ACH) is the most frequent form of shortlimb dwarfism. Recently, the gene mutation responsible for ACH has been identified in the transmembrane domain of the fibroblast growth factor receptor 3 gene. The cause of ACH is a point mutation at nucleotide 1138 of the cDNA, resulting in the substitution of an arginine residue for a glycine. For the purpose of prenatal diagnosis of ACH, we have used the nested polymerase chain reaction to ensure the gene amplification. Although the normal allele has no restriction site around the causative sequence, we have devised an unique method to incorporate a restriction site of Sp/I into the normal allele only using modified primer sets. We report here the use of this polymerase chain reaction methodology which can ensure the gene amplification and omit the complicated steps of sequencing for prenatal diagnosis.

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Localization of the achondroplasia gene to the distal 2. 5 Mb of human chromosome 4p

Cited by 67 publications

References 1 publication

Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report

Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report

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

Prenatal Diagnosis of Achondroplasia Using the Nested Polymerase Chain Reaction with Modified Primer Sets

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