Identification of a novel NOG mutation in a Chinese family with proximal symphalangism

Liu, Fei; HUANG, Ying-Hao; Liu, Luying; Liang, Bo; Qu, Zhen; Huang, Gang; Li, Chang; Tian, Rong; Jiang, Zhuhui; Liu, Fucan; Yu, Xiaowei; Huang, Yingjie; Liu, Jingyu; Tang, Zhaohui

doi:10.1016/j.cca.2013.12.004

Cited by 15 publications

(17 citation statements)

References 14 publications

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“…In the family reported here, both cysteine 184 and 230 were affected, resulting in stapes rigidity, hearing loss, and phalangeal dysfunction [16]. These ndings con rm that mutations with the same NOG coding sequence can lead to different phenotypes and inter-family variation [17][18][19][20][21][22][23][24][25] . This suggests that disease expression can be independent of the location and type of NOG mutation.NOG Mutation contains a variety of syndromes.…”

Section: Discussionsupporting

confidence: 72%

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Genetic and Clinical Phenotypic Analysis of Familial Stapes Sclerosis Caused by a NOG Mutation

Jiang

LUO

2020

Preprint

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Background：Noggin protein encoded by NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint develop pment. The symptoms include abnormal skeletal development and conductive deaf ness Methods: In a Retrospective study, clinical data of the proband and her family members include 8 people and 50 healthy normal controls were collected. Secon d-generation sequencing were performed on peripheral blood samples from them. Results：The sequencing analysis indicated that, in the probrand, the NOG gene included c.532T>C (cytosine deletion), leading to an amino acid change. The prob and's father, grandmother, second sister, and third sister also had this mutation, whereas those with normal phenotypes did not have the mutation. Conclusion：Analysis of this family showed that the new presentation of c.532T>C mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritan ce reflected in a mild clinical phenotype, which is of great significance for further studies of the clinical phenotype and pathogenesis of stapetectopia.

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Section: Discussionsupporting

confidence: 72%

“…Stapes ankylosis may be associated with skeletal dysplasia, such as osteogenesis imperfecta type I (MIM 166200). [5][6][7]Skeletal dysplasia is a common congenital malformation and a common phenotype in many inherited disorders.…”

Section: Introductionmentioning

confidence: 99%

Genetic and Clinical Phenotypic Analysis of Familial Stapes Sclerosis Caused by a NOG Mutation

Jiang

LUO

2020

Preprint

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“…Nog mutation site and clinical phenotype analysis we searched literature database and PubMED data Library to nd out the relevant literature of nog gene mutation.Tab le 1 lists the nog mutation sites reported so far Clinical phenotype [13][14][15][16][17][18][19]. The results showed that the mutation site of nog was varied, the clinical features also vary.…”

Section: Resultsmentioning

confidence: 99%

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by a NOG mutation

Jiang

Luo

2020

Preprint

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Background: The noggin protein encoded by the NOG gene can interfere with the binding of bone morphogenetic protein to its receptor, thus affecting bone and joint development. The symptoms include abnormal skeletal development and conductive deafness.Methods: In a retrospective study, clinical data of the proband and her family members, including 8 people and 50 healthy normal controls, were collected. Second-generation sequencing was performed on peripheral blood samples from them.Results: The sequencing analysis indicated that in the proband, the NOG gene had a c.532T>C, p.C178R (cytosine deletion, NM_005450.6:c.532T>C), leading to an amino acid change. The proband's father, grandmother, second sister, and third sister also had this mutation, whereas family members with normal phenotypes did not have the mutation.Conclusion: Analysis of this family showed that the novel presentation of the c.532T>C mutation in the NOG gene resulted in syndrome-type autosomal dominant inheritance reflected in a mild clinical phenotype, which is of great importance for further studies of the clinical phenotype and pathogenesis of stapes sclerosis.

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“…NOG inhibits cartilage development, leading to separation of the cartilage and thus joint formation[1,9]. NOG mutations lead to under expression of NOG resulting in high levels of BMPs, cartilage overgrowth and the absence of joint formation, which affects individuals with SYM1[1,8-11]. GDF5 encodes Growth and Differentiation factor 5, a protein belonging to the transforming growth factor beta superfamily which also has an important role in joint development.…”

Section: Discussionmentioning

confidence: 99%

Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

Leonidou

Irving

Holden

et al. 2016

WJO

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Proximal symphalangism (SYM1B) (OMIM 615298) is an autosomal dominant developmental disorder affecting joint fusion. It is characterized by variable fusions of the proximal interphalangeal joints of the hands, typically of the ring and little finger, with the thumb typically being spared. SYM1 is frequently associated with coalition of tarsal bones and conductive hearing loss. Molecular studies have identified two possible genetic aetiologies for this syndrome, NOG and GDF5. We herein present a British caucasian family with SYM1B caused by a mutation of the GDF5 gene. A mother and her three children presented to the orthopaedic outpatient department predominantly for feet related problems. All patients had multiple tarsal coalitions and hand involvement in the form of either brachydactyly or symphalangism of the proximal and middle phalanx of the little fingers. Genetic testing in the eldest child and his mother identified a heterozygous missense mutation in GDF5 c.1313G>T (p.R438L), thereby establishing SYM1B as the cause of the orthopaedic problems in this family. There were no mutations identified in the NOG gene. This report highlights the importance of thorough history taking, including a three generation family history, and detailed clinical examination of children with fixed planovalgus feet and other family members to detect rare skeletal dysplasia conditions causing pain and deformity, and provides details of the spectrum of problems associated with SYM1B.

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Identification of a novel NOG mutation in a Chinese family with proximal symphalangism

Cited by 15 publications

References 14 publications

Genetic and Clinical Phenotypic Analysis of Familial Stapes Sclerosis Caused by a NOG Mutation

Genetic and Clinical Phenotypic Analysis of Familial Stapes Sclerosis Caused by a NOG Mutation

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by a NOG mutation

Recurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family

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