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A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.

Zhang W, Zhou M, Liu C, Liu C, Qiao T, Huang D, Ran F, Wang W, Liu C, Liu Z - Biomed Res Int (2015)

Bottom Line: Previous studies have demonstrated that mutations in SMAD3, a key regulator of TGF-β signal transduction, contribute to AOS.A novel SMAD3 mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family.Our finding expands the mutation spectrum of SMAD3 gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype and SMAD3 mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS.

View Article: PubMed Central - PubMed

Affiliation: Department of Vascular Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, Jiangsu 210008, China.

ABSTRACT
Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies. Previous studies have demonstrated that mutations in SMAD3, a key regulator of TGF-β signal transduction, contribute to AOS. Here, we investigated a family of three generations affected by AOS. A novel SMAD3 mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family. Our finding expands the mutation spectrum of SMAD3 gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype and SMAD3 mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS.

No MeSH data available.


Related in: MedlinePlus

Pedigree and radiologic findings. (a) Pedigree of a Chinese family with aneurysms-osteoarthritis syndrome (AOS). Round symbols indicate female; square symbols, male; fully filled symbols, AOS; unfilled symbols, unaffected; diagonal lines, deceased; arrow, proband. (b) Computed tomography angiography (CTA) of II-2 demonstrated a bilateral common iliac artery aneurysm and abdominal aorta tortuosity. (c) CTA of II-2 revealed mural thrombosis in the right common iliac artery aneurysm. (d) Magnetic resonance image (MRI) of II-2 showed marked degenerative changes of lumbar spine and narrowing of the spinal cord.
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fig1: Pedigree and radiologic findings. (a) Pedigree of a Chinese family with aneurysms-osteoarthritis syndrome (AOS). Round symbols indicate female; square symbols, male; fully filled symbols, AOS; unfilled symbols, unaffected; diagonal lines, deceased; arrow, proband. (b) Computed tomography angiography (CTA) of II-2 demonstrated a bilateral common iliac artery aneurysm and abdominal aorta tortuosity. (c) CTA of II-2 revealed mural thrombosis in the right common iliac artery aneurysm. (d) Magnetic resonance image (MRI) of II-2 showed marked degenerative changes of lumbar spine and narrowing of the spinal cord.

Mentions: The pedigree of a three-generation Chinese family with AOS is shown in Figure 1(a). The family exhibited an autosomal dominant inheritance pattern. Radiographic examination of the artery tree and joints was performed in family members. The study was approved by the local ethics committee. Informed written consent was obtained from all participants.


A Novel Mutation of SMAD3 Identified in a Chinese Family with Aneurysms-Osteoarthritis Syndrome.

Zhang W, Zhou M, Liu C, Liu C, Qiao T, Huang D, Ran F, Wang W, Liu C, Liu Z - Biomed Res Int (2015)

Pedigree and radiologic findings. (a) Pedigree of a Chinese family with aneurysms-osteoarthritis syndrome (AOS). Round symbols indicate female; square symbols, male; fully filled symbols, AOS; unfilled symbols, unaffected; diagonal lines, deceased; arrow, proband. (b) Computed tomography angiography (CTA) of II-2 demonstrated a bilateral common iliac artery aneurysm and abdominal aorta tortuosity. (c) CTA of II-2 revealed mural thrombosis in the right common iliac artery aneurysm. (d) Magnetic resonance image (MRI) of II-2 showed marked degenerative changes of lumbar spine and narrowing of the spinal cord.
© Copyright Policy - open-access
Related In: Results  -  Collection

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getmorefigures.php?uid=PMC4499615&req=5

fig1: Pedigree and radiologic findings. (a) Pedigree of a Chinese family with aneurysms-osteoarthritis syndrome (AOS). Round symbols indicate female; square symbols, male; fully filled symbols, AOS; unfilled symbols, unaffected; diagonal lines, deceased; arrow, proband. (b) Computed tomography angiography (CTA) of II-2 demonstrated a bilateral common iliac artery aneurysm and abdominal aorta tortuosity. (c) CTA of II-2 revealed mural thrombosis in the right common iliac artery aneurysm. (d) Magnetic resonance image (MRI) of II-2 showed marked degenerative changes of lumbar spine and narrowing of the spinal cord.
Mentions: The pedigree of a three-generation Chinese family with AOS is shown in Figure 1(a). The family exhibited an autosomal dominant inheritance pattern. Radiographic examination of the artery tree and joints was performed in family members. The study was approved by the local ethics committee. Informed written consent was obtained from all participants.

Bottom Line: Previous studies have demonstrated that mutations in SMAD3, a key regulator of TGF-β signal transduction, contribute to AOS.A novel SMAD3 mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family.Our finding expands the mutation spectrum of SMAD3 gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype and SMAD3 mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS.

View Article: PubMed Central - PubMed

Affiliation: Department of Vascular Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 321 Zhongshan Road, Nanjing, Jiangsu 210008, China.

ABSTRACT
Aneurysms-osteoarthritis syndrome (AOS) is a recently delineated autosomal dominant disorder characterized by aneurysms, dissections, and tortuosity throughout the arterial tree in association with early onset osteoarthritis, mild craniofacial features, and skeletal and cutaneous anomalies. Previous studies have demonstrated that mutations in SMAD3, a key regulator of TGF-β signal transduction, contribute to AOS. Here, we investigated a family of three generations affected by AOS. A novel SMAD3 mutation, c.266G>A (p.C89Y), was identified and cosegregated with the affected individuals in this family. Our finding expands the mutation spectrum of SMAD3 gene and further strengthens the connection between the presence of aneurysms-osteoarthritis phenotype and SMAD3 mutations, which facilitates the understanding of the genotype-phenotype correlation of AOS.

No MeSH data available.


Related in: MedlinePlus