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Genetic Analysis of Limb Malformation Disorders: Miller Syndrome Sequencing Study (LMD-MS)

ABSTRACT:

The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures.

The exome sequences of two siblings and two unrelated individuals were obtained by massively parallel DNA sequencing. The four individuals were affected with Miller syndrome (OMIM: 263750).

Additionally, the whole-genome sequences of a family of four were obtained with the method of Complete Genomics Incorporated (CGI). The two offspring were both affected with Miller syndrome and is the same sibling pair mentioned previously from whom exome sequences were also obtained.

PROVIDER: phs000244 | dbGaP |

SECONDARY ACCESSION(S): PRJNA74777PRJNA74775PRJNA74773

REPOSITORIES: dbGaP

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Dataset's files

Source:

			Action	DRS
	GapExchange_phs000244.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs000244.MillerSyndrome.v1.p1.MULTI.pdf	Pdf
	manifest_phs000244.MillerSyndrome.v1.p1.c1.GRU.pdf	Pdf
	datadict_v2.xsl	Other

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Genetic Analysis of Limb Malformation Disorders: Miller Syndrome Sequencing Study (LMD-MS)

Project description:The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures. The exome sequences of two siblings and two unrelated individuals were obtained by massively parallel DNA sequencing. The four individuals were affected with Miller syndrome (OMIM: <a href="http://www.ncbi.nlm.nih.gov/omim/263750">263750</a>). Additionally, the whole-genome sequences of a family of four were obtained with the method of Complete Genomics Incorporated (CGI). The two offspring were both affected with Miller syndrome and is the same sibling pair mentioned previously from whom exome sequences were also obtained.

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