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Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome
American journal of medical genetics, 2003-12, Vol.123A (3), p.236-242
Johnston, Jennifer J.
Olivos-Glander, Isabelle
Turner, Joyce
Aleck, Kyrieckos
Bird, Lynne M.
Mehta, Lakshmi
Schimke, R. Neil
Heilstedt, Heidi
Spence, J. Edward
Blancato, Jan
Biesecker, Leslie G.
2003
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Johnston, Jennifer J.
Olivos-Glander, Isabelle
Turner, Joyce
Aleck, Kyrieckos
Bird, Lynne M.
Mehta, Lakshmi
Schimke, R. Neil
Heilstedt, Heidi
Spence, J. Edward
Blancato, Jan
Biesecker, Leslie G.
Titel
Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome
Ist Teil von
American journal of medical genetics, 2003-12, Vol.123A (3), p.236-242
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2003
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Greig cephalopolysyndactyly syndrome (GCPS) is caused by haploinsufficiency of GLI3 on 7p13. Features of GCPS include polydactyly, macrocephaly, and hypertelorism, and may be associated with cognitive deficits and abnormalities of the corpus callosum. GLI3 mutations in GCPS patients include point, frameshift, translocation, and gross deletion mutations. FISH and STRP analyses were applied to 34 patients with characteristics of GCPS. Deletions were identified in 11 patients and the extent of their deletion was determined. Nine patients with deletions had mental retardation (MR) or developmental delay (DD) and were classified as severe GCPS. These severe GCPS patients have manifestations that overlap with the acrocallosal syndrome (ACLS). The deletion breakpoints were analyzed in six patients whose deletions ranged in size from 151 kb to 10.6 Mb. Junction fragments were found to be distinct with no common sequences flanking the breakpoints. We conclude that patients with GCPS caused by large deletions that include GLI3 are likely to have cognitive deficits, and we hypothesize that this severe GCPS phenotype is caused by deletion of contiguous genes. © 2003 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825, 0148-7299
eISSN: 1552-4833, 1096-8628
DOI: 10.1002/ajmg.a.20318
Titel-ID: cdi_proquest_miscellaneous_71356561
Format
–
Schlagworte
Abnormalities, Multiple - genetics
,
Abnormalities, Multiple - pathology
,
acrocallosal
,
Agenesis of Corpus Callosum
,
Base Sequence
,
Biological and medical sciences
,
Chromosome aberrations
,
Chromosome Deletion
,
Chromosomes, Human, Pair 7 - genetics
,
Cognition Disorders - pathology
,
Craniofacial Abnormalities
,
Diagnosis, Differential
,
DNA Mutational Analysis
,
DNA-Binding Proteins - genetics
,
Female
,
GCPS
,
Gene Deletion
,
Genotype
,
GLI3
,
Humans
,
Hypertelorism - pathology
,
In Situ Hybridization, Fluorescence
,
Intellectual Disability - pathology
,
Karyotyping
,
Kruppel-Like Transcription Factors
,
Male
,
Medical genetics
,
Medical sciences
,
Nerve Tissue Proteins
,
Phenotype
,
Polydactyly - pathology
,
Syndrome
,
Transcription Factors - genetics
,
Zinc Finger Protein Gli3
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