NDLI: A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

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A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Boycott, Kym M. Beaulieu, Chandree Puffenberger, Erik G. McLeod, D. Ross Parboosingh, Jillian S. Innes, A. Micheil
Description	Country affiliation: Canada Author Affiliation: Boycott KM ( Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. kboycott@cheo.on.ca)
Abstract	The Hutterites are a genetically isolated Anabaptist group living on the North American prairies; their population numbers over 40,000, the majority of whom are descendants of 89 founders. An autosomal recessive developmental disorder was identified in four patients from two consanguineous Hutterite families. To our knowledge the clinical presentation is unique and undescribed. The patients have distinctive facial features, congenital malformations of the heart and genitourinary system, head circumference at the 2nd centile and developmental delay. The facial features include tall forehead with high anterior hairline, deep-set eyes with short, upslanted palpebral fissures, long nose with low-hanging columella, and thick vermilion of the upper and lower lip. Karyotype and baseline metabolic studies were normal. An identity-by-descent mapping approach was used to localize the gene for this disorder. The patients were genotyped using Affymetrix GeneChip Human Mapping 10 K (Xba 2.0) and 50 K (Xba 240) Arrays which identified a single 5.5 Mb homozygous region at chromosome 16p13.3. To confirm and refine the boundaries of this region, microsatellite markers were used to genotype the patients, their parents, and the available unaffected siblings. The disease locus was refined to a region of 5.1 Mb containing 173 known or predicted genes. No other recessive disorders with similar clinical features are currently mapped to this region. The coding regions of over fifteen genes, prioritized by microarray expression analysis and information available in public databases, have been sequenced, but no potential pathogenic mutations have been identified. The identification of the gene for this syndrome will provide new insights into development and learning.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Chromosomes, Human, Pair 16 Developmental Disabilities Facies Population Diagnosis Adolescent Adult Child Chromosome Mapping Female Genetic Markers Humans Pedigree Syndrome Young Adult Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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