Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Kilinc, Mehmet O.; Ninis, Vasiliki; Uğur, Sibel Aylin; Tüysüz, Beyhan; Seven, Mehmet; Balcí, Sevim; Goodship, Judith A.; Tolun, Aslıhan

doi:10.1038/sj.ejhg.5201057

Cited by 35 publications

(6 citation statements)

References 11 publications

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“…MNAT1 gene was considered to be the best candidate to be responsible for SCKL3 as identified by linkage analysis in a group of five families of Turkish descent [Kılınç et al, ]. The syndrome is an autosomal recessive syndrome characterized by microcephaly, a “bird‐like” head, cleft palate, dentition abnormalities, pancytopenia, and ocular manifestations [Kılınç et al, ]. None of these features are found in our patient; however, the phenotype of this syndrome varies tremendously due to genetic heterogeneity [Kılınç et al, ].…”

Section: Discussionmentioning

confidence: 87%

“…The syndrome is an autosomal recessive syndrome characterized by microcephaly, a “bird‐like” head, cleft palate, dentition abnormalities, pancytopenia, and ocular manifestations [Kılınç et al, ]. None of these features are found in our patient; however, the phenotype of this syndrome varies tremendously due to genetic heterogeneity [Kılınç et al, ]. One patient, a 12‐year‐old female, has phenotype that includes pectus carinatum [Kılınç et al, ].…”

Section: Discussionmentioning

confidence: 97%

“…Seckel syndrome is known to be associated with DNA repair mutation. Four gene loci are mapped to this syndrome: SCKL1 at 3q22.1–q24, SCKL2 at 18p11.31–q11.2, LIG4 at 13q33.3 and SCKL3 at 14q23 [Kılınç et al, ]. MNAT1 gene was considered to be the best candidate to be responsible for SCKL3 as identified by linkage analysis in a group of five families of Turkish descent [Kılınç et al, ].…”

Section: Discussionmentioning

confidence: 99%

“…Four gene loci are mapped to this syndrome: SCKL1 at 3q22.1–q24, SCKL2 at 18p11.31–q11.2, LIG4 at 13q33.3 and SCKL3 at 14q23 [Kılınç et al, ]. MNAT1 gene was considered to be the best candidate to be responsible for SCKL3 as identified by linkage analysis in a group of five families of Turkish descent [Kılınç et al, ]. The syndrome is an autosomal recessive syndrome characterized by microcephaly, a “bird‐like” head, cleft palate, dentition abnormalities, pancytopenia, and ocular manifestations [Kılınç et al, ].…”

Section: Discussionmentioning

confidence: 99%

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An intragenic deletion of the gene MNAT1 in a family with pectus deformities

Heithaus

Davenport

Twyman

et al. 2014

American J of Med Genetics Pt A

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Pectus carinatum and excavatum have multiple genetic associations. We report on a novel association of these deformities in a 34-month-old male and his father, likely due to a small intragenic deletion of MNAT1 (ménage a trois 1 gene). Both individuals share a deletion of MNAT1 located at 14q23.1 and an interstitial duplication of CHRNA7 located at 15q13.3. Deletion of MNAT1 has been associated with connective tissue abnormalities and is likely the etiology of the malformations, whereas the duplication of CHNRA7 is unlikely related due to the lack of association with any such connective tissue abnormalities.

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

An intragenic deletion of the gene MNAT1 in a family with pectus deformities

Heithaus

Davenport

Twyman

et al. 2014

American J of Med Genetics Pt A

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“…Aslı Tolun at Bog aziçi University, a pioneering scientist in molecular genetics research in Turkey, has been researching in this field for almost three decades [101][102][103][104][105][106].…”

Section: Basic Biosciences: a Breakthrough Is Expectedmentioning

confidence: 99%

Biotechnology in Turkey: An overview

Özdamar

2009

Biotechnology Journal

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The term biotechnology first appeared in the programs of the Scientific and Technological Research Council of Turkey (TUBITAK) in 1982. The State Planning Organization (SPO) in 1988 defined biotechnology and the scientific fields. Moreover, it put forward an institutional framework and suggested priority areas for research and development. Turkey has been researching and investing in biotechnology for almost four decades. This review covers the development of science and technology policy with its history, consensus and consequences, bio-industries in Turkey, and research activities in biotechnology at Turkish Universities. Details are provided by the research groups in response to a common request for information on their activities and major publications in the field. The information provided has been grouped under thematic topics within the broad theme of biotechnology, and summarized within these topics. Although many aspects of biotechnological research are being pursued in Turkey, it appears that the most common research activities of the field are in fermentation processes, environmental biotechnology, and biomedical engineering.

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Seckel Syndrome

2012

Atlas of Genetic Diagnosis and Counseling

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Is the novel SCKL3 at 14q23 the predominant Seckel locus?

Cited by 35 publications

References 11 publications

An intragenic deletion of the gene MNAT1 in a family with pectus deformities

An intragenic deletion of the gene MNAT1 in a family with pectus deformities

Biotechnology in Turkey: An overview

Seckel Syndrome

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