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p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.
Indian J Pediatr. 2011 Jan; 78(1):103-5.IJ

Abstract

OBJECTIVE

To define the mutation type in a clinically suspected Egyptian child with Freeman-Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism, long philtrum, small pinched nose and pursed mouth.

METHODS

Amplification of exon 17 of the embryonic myosin heavy chain (MYH3) gene was done using one forward and two different reverse primers, and then the cleaned PCR product was sequenced.

RESULT

A de novo missense mutation (c.2014C>T with replacement C > Y) in MYH3 gene leading to change of arginine at position 672 by cytosine in protein sequence.

CONCLUSION

Mutation analysis remains to be the standard way for definitive diagnosis in FSS. The authors currently report, for the first time in an Egyptian infant aged 16 months who presented with FSS, a c.2014C>T missense mutation of MYH3 gene, with no family history or consanguinity.

Authors+Show Affiliations

Mansoura University Children's Hospital, Mansoura, Egypt. m.alhaggar@yahoo.co.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

20924721

Citation

Al-Haggar, Mohammad, et al. "P.R672C Mutation of MYH3 Gene in an Egyptian Infant Presented With Freeman-Sheldon Syndrome." Indian Journal of Pediatrics, vol. 78, no. 1, 2011, pp. 103-5.
Al-Haggar M, Yahia S, Damjanovich K, et al. P.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. Indian J Pediatr. 2011;78(1):103-5.
Al-Haggar, M., Yahia, S., Damjanovich, K., Ahmad, N., Hamada, I., & Bayrak-Toydemir, P. (2011). P.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. Indian Journal of Pediatrics, 78(1), 103-5. https://doi.org/10.1007/s12098-010-0230-y
Al-Haggar M, et al. P.R672C Mutation of MYH3 Gene in an Egyptian Infant Presented With Freeman-Sheldon Syndrome. Indian J Pediatr. 2011;78(1):103-5. PubMed PMID: 20924721.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome. AU - Al-Haggar,Mohammad, AU - Yahia,Soheir, AU - Damjanovich,Kristy, AU - Ahmad,Nermin, AU - Hamada,Iman, AU - Bayrak-Toydemir,Pinar, Y1 - 2010/10/06/ PY - 2010/03/20/received PY - 2010/05/17/accepted PY - 2010/10/7/entrez PY - 2010/10/7/pubmed PY - 2011/5/4/medline SP - 103 EP - 5 JF - Indian journal of pediatrics JO - Indian J Pediatr VL - 78 IS - 1 N2 - OBJECTIVE: To define the mutation type in a clinically suspected Egyptian child with Freeman-Sheldon syndrome (FSS); it involves certain skeletal malformations with some facial characteristics; skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism, long philtrum, small pinched nose and pursed mouth. METHODS: Amplification of exon 17 of the embryonic myosin heavy chain (MYH3) gene was done using one forward and two different reverse primers, and then the cleaned PCR product was sequenced. RESULT: A de novo missense mutation (c.2014C>T with replacement C > Y) in MYH3 gene leading to change of arginine at position 672 by cytosine in protein sequence. CONCLUSION: Mutation analysis remains to be the standard way for definitive diagnosis in FSS. The authors currently report, for the first time in an Egyptian infant aged 16 months who presented with FSS, a c.2014C>T missense mutation of MYH3 gene, with no family history or consanguinity. SN - 0973-7693 UR - https://www.unboundmedicine.com/medline/citation/20924721/p_R672C_mutation_of_MYH3_gene_in_an_Egyptian_infant_presented_with_Freeman_Sheldon_syndrome_ L2 - https://dx.doi.org/10.1007/s12098-010-0230-y DB - PRIME DP - Unbound Medicine ER -