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Consanguinity as an Adjunct Diagnostic Tool.
Indian J Pediatr. 2016 Mar; 83(3):258-60.IJ

Abstract

History of consanguinity is important in monogenic disorders as it supports autosomal recessive mode of inheritance. This case report illustrates the use of homozygosity mapping using single nucleotide polymorphism (SNP) microarray data to identify the causative gene in a case with Warburg Micro syndrome (WARBM). This syndrome has non-specific features like microcephaly and cataract; etiological diagnosis based on clinical features is not possible. Four causative genes are known for WARBM syndrome. In such a situation of autosomal recessive disorders of heterogeneous etiologies, SNP microarray and homozygosity mapping is a useful and cost effective strategy.

Authors+Show Affiliations

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India.Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India. shubharaophadke@gmail.com.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26138576

Citation

Srivastava, Priyanka, et al. "Consanguinity as an Adjunct Diagnostic Tool." Indian Journal of Pediatrics, vol. 83, no. 3, 2016, pp. 258-60.
Srivastava P, Saxena D, Joshi S, et al. Consanguinity as an Adjunct Diagnostic Tool. Indian J Pediatr. 2016;83(3):258-60.
Srivastava, P., Saxena, D., Joshi, S., & Phadke, S. R. (2016). Consanguinity as an Adjunct Diagnostic Tool. Indian Journal of Pediatrics, 83(3), 258-60. https://doi.org/10.1007/s12098-015-1764-9
Srivastava P, et al. Consanguinity as an Adjunct Diagnostic Tool. Indian J Pediatr. 2016;83(3):258-60. PubMed PMID: 26138576.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Consanguinity as an Adjunct Diagnostic Tool. AU - Srivastava,Priyanka, AU - Saxena,Deepti, AU - Joshi,Stephen, AU - Phadke,Shubha R, Y1 - 2015/07/04/ PY - 2015/01/13/received PY - 2015/04/02/accepted PY - 2015/7/4/entrez PY - 2015/7/4/pubmed PY - 2017/3/1/medline KW - Homozygosity mapping KW - India KW - Loss of heterozygosity KW - Micro syndrome KW - Mutation KW - RAB3GAP1 SP - 258 EP - 60 JF - Indian journal of pediatrics JO - Indian J Pediatr VL - 83 IS - 3 N2 - History of consanguinity is important in monogenic disorders as it supports autosomal recessive mode of inheritance. This case report illustrates the use of homozygosity mapping using single nucleotide polymorphism (SNP) microarray data to identify the causative gene in a case with Warburg Micro syndrome (WARBM). This syndrome has non-specific features like microcephaly and cataract; etiological diagnosis based on clinical features is not possible. Four causative genes are known for WARBM syndrome. In such a situation of autosomal recessive disorders of heterogeneous etiologies, SNP microarray and homozygosity mapping is a useful and cost effective strategy. SN - 0973-7693 UR - https://www.unboundmedicine.com/medline/citation/26138576/Consanguinity_as_an_Adjunct_Diagnostic_Tool_ L2 - https://dx.doi.org/10.1007/s12098-015-1764-9 DB - PRIME DP - Unbound Medicine ER -