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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome.

Authors :
Willatt, Lionel
Cox, James
Barber, John
Cabanas, Elisabet Dachs
Collins, Amanda
Donnai, Dian
Fitzpatrick, David R.
Maher, Eddy
Martin, Howard
Parnau, Josep
Pindar, Lesley
Ramsay, Jacqueline
Shaw-Smith, Charles
Sistermans, Erik A.
Tettenborn, Michael
Trump, Dorothy
de Vries, Bert B. A.
Walker, Kate
Raymond, F. Lucy
Source :
American Journal of Human Genetics. Jul2005, Vol. 77 Issue 1, p154-160. 7p.
Publication Year :
2005

Abstract

We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features—including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation—were observed, but each feature was only found once, in a single patient. The microdeletion is ∼1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
00029297
Volume :
77
Issue :
1
Database :
Academic Search Index
Journal :
American Journal of Human Genetics
Publication Type :
Academic Journal
Accession number :
17256425
Full Text :
https://doi.org/10.1086/431653