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Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population

Orioli, IM and Vieira, AR and Castilla, EE and Ming, JE and Muenke, M (2002) Mutational analysis of the Sonic Hedgehog gene in 220 newborns with oral clefts in a South American (ECLAMC) population. American Journal of Medical Genetics, 108 (1). 12 - 15. ISSN 0148-7299

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Oral clefts generally have a multifactorial etiology. A number of genes contribute to the formation of the face and palate. Cleft lip and/or palate can occur in pedigrees with autosomal dominant holoprosencephaly due to mutations in Sonic Hedgehog (SHH). In addition, animal models have shown that SHH is involved in face development. We thus examined the human SHH gene in 220 newborn infants with nonsyndromic oral clefts registered by the Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMC (Latin American Collaborative Study of Congenital Malformations). We found 15 variant bands in 13 patients with oral clefts, representing five different base changes, all of which were found by sequencing to represent silent polymorphisms. Four occurred in introns. The alteration occurring in an exon, Ser190-Ser, may create a consensus sequence for the 3′splice site 6 bp downstream of the original consensus sequence. Thus, we did not identify any clearly disease-causing mutation in SHH in these patients, and conclude that SHH mutations are not a frequent cause of isolated oral clefts in humans.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Orioli, IM
Vieira, ARarv11@pitt.eduARV11
Castilla, EE
Ming, JE
Muenke, M
Date: 15 February 2002
Date Type: Publication
Journal or Publication Title: American Journal of Medical Genetics
Volume: 108
Number: 1
Page Range: 12 - 15
DOI or Unique Handle: 10.1002/ajmg.10204
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0148-7299
MeSH Headings: Animals; Cleft Lip--genetics; Cleft Palate--genetics; DNA Mutational Analysis; Genetic Predisposition to Disease; Hedgehog Proteins; Humans; Infant, Newborn; Mice; Polymorphism, Genetic; South America; Trans-Activators--genetics; Trans-Activators--physiology
PubMed ID: 11857543
Date Deposited: 18 Sep 2012 15:48
Last Modified: 20 Feb 2020 13:55


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