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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer Berlin Heidelberg

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DOI

10.1007/s10096-003-0889-3

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ISSN

1432-1203

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Establishing a reference group for distal 18q cl

Authors: Jannine D Cody Minire Hasi Bridgette Soileau Patricia Heard Erika Carter Courtney Sebold Louise O’Donnell Brian Perry Robert F Stratton Daniel E Hale
Publish Date: 2013/10/05
Volume: 133, Issue: 2, Pages: 199-209
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Abstract

Although constitutional chromosome abnormalities have been recognized since the 1960s clinical characterization and development of treatment options have been hampered by their obvious genetic complexity and relative rarity Additionally deletions of 18q are particularly heterogeneous with no two people having the same breakpoints We identified 16 individuals with deletions that despite unique breakpoints encompass the same set of genes within a 176Mb region This group represents the most genotypically similar group yet identified with distal 18q deletions As the deletion is of average size when compared with other 18q deletions this group can serve as a reference point for the clinical and molecular description of this condition We performed a thorough medical record review as well as a series of clinical evaluations on 14 of the 16 individuals Common functional findings included developmental delays hypotonia growth hormone deficiency and hearing loss Structural anomalies included foot anomalies ear canal atresia/stenosis and hypospadias The majority of individuals performed within the low normal range of cognitive ability but had more serious deficits in adaptive abilities Of interest the hemizygous region contains 38 known genes 26 of which are sufficiently understood to tentatively determine dosage sensitivity Published data suggest that 20 are unlikely to cause an abnormal phenotype in the hemizygous state and five are likely to be dosage sensitive TNX3 NETO1 ZNF407 TSHZ1 and NFATC A sixth gene ATP9B may be conditionally dosage sensitive Not all distal 18q phenotypes can be attributed to these six genes however this is an important advance in the molecular characterization of 18q deletionsForemost the authors wish to thank the families who are participants in the Chromosome 18 Clinical Research Center for their ongoing commitment to this work and to our shared vision of a smoother road for future families This work was primarily funded by the Chromosome 18 Registry and Research Society and the MacDonald family Additional support was provided through the UTHSCSA Institute for the Integration of Medicine and Science UL1TR000149 NCATS/NIH

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