A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26

2.50
Hdl Handle:
http://hdl.handle.net/10541/70274
Title:
A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26
Authors:
Cilliers, Deirdre D; Parveen, Rahat; Clayton, Peter E; Cairns, Stephen A; Clarke, Sheila; Shalet, Stephen M; Black, G C; Newman, William G; Clayton-Smith, Jill
Abstract:
X-linked mental retardation (XLMR) is a heterogeneous disorder with both syndromic and non-syndromic forms. Here we describe the clinical and molecular characterisation of a family with a syndromic form of XLMR with hypogonadism and short stature. We investigated a family in which four male members in two generations presented with hypergonadotrophic hypogonadism associated with development of small and abnormal testes. In two of the males, late-onset testicular ascent was noted. In addition, all affected males had short stature (<0.4th centile) and mild learning difficulties and three out of the four had microcephaly. Karyotypes were normal and endocrine investigations confirmed primary testicular failure. The phenotype segregated as an X-linked trait. Haplotype and genetic two-point linkage analysis with 22 microsatellites excluded the whole X chromosome except for a region on Xq25-Xq27 encompassing 13.7Mb with a maximum LOD score of 1.1 for marker DXS8038 at theta=0.05. One family previously described as having XLMR with hypogonadism and short stature maps to the same X chromosome region implicated in our family. However, the more severe mental retardation, muscle wasting and tremor described in this other family would suggest that our family is affected by a novel XLMR syndrome.
Affiliation:
Academic Department of Medical Genetics and Regional Genetic Services, St Mary's Hospital, University of Manchester, Manchester, UK. deirdre.cilliers@icr.ac.uk
Citation:
A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26., 50 (3):216-23 Eur J Med Genet
Journal:
European Journal of Medical Genetics
Issue Date:
7-Jan-2007
URI:
http://hdl.handle.net/10541/70274
DOI:
10.1016/j.ejmg.2007.01.003
PubMed ID:
17369115
Type:
Article
Language:
en
ISSN:
1769-7212
Appears in Collections:
All Christie Publications

Full metadata record

DC FieldValue Language
dc.contributor.authorCilliers, Deirdre D-
dc.contributor.authorParveen, Rahat-
dc.contributor.authorClayton, Peter E-
dc.contributor.authorCairns, Stephen A-
dc.contributor.authorClarke, Sheila-
dc.contributor.authorShalet, Stephen M-
dc.contributor.authorBlack, G C-
dc.contributor.authorNewman, William G-
dc.contributor.authorClayton-Smith, Jill-
dc.date.accessioned2009-06-12T08:53:45Z-
dc.date.available2009-06-12T08:53:45Z-
dc.date.issued2007-01-07-
dc.identifier.citationA new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26., 50 (3):216-23 Eur J Med Geneten
dc.identifier.issn1769-7212-
dc.identifier.pmid17369115-
dc.identifier.doi10.1016/j.ejmg.2007.01.003-
dc.identifier.urihttp://hdl.handle.net/10541/70274-
dc.description.abstractX-linked mental retardation (XLMR) is a heterogeneous disorder with both syndromic and non-syndromic forms. Here we describe the clinical and molecular characterisation of a family with a syndromic form of XLMR with hypogonadism and short stature. We investigated a family in which four male members in two generations presented with hypergonadotrophic hypogonadism associated with development of small and abnormal testes. In two of the males, late-onset testicular ascent was noted. In addition, all affected males had short stature (<0.4th centile) and mild learning difficulties and three out of the four had microcephaly. Karyotypes were normal and endocrine investigations confirmed primary testicular failure. The phenotype segregated as an X-linked trait. Haplotype and genetic two-point linkage analysis with 22 microsatellites excluded the whole X chromosome except for a region on Xq25-Xq27 encompassing 13.7Mb with a maximum LOD score of 1.1 for marker DXS8038 at theta=0.05. One family previously described as having XLMR with hypogonadism and short stature maps to the same X chromosome region implicated in our family. However, the more severe mental retardation, muscle wasting and tremor described in this other family would suggest that our family is affected by a novel XLMR syndrome.en
dc.language.isoenen
dc.subject.meshAdolescent-
dc.subject.meshAdult-
dc.subject.meshChild-
dc.subject.meshChromosome Mapping-
dc.subject.meshChromosomes, Human, X-
dc.subject.meshFacies-
dc.subject.meshFemale-
dc.subject.meshGrowth Disorders-
dc.subject.meshHaplotypes-
dc.subject.meshHumans-
dc.subject.meshHypogonadism-
dc.subject.meshMale-
dc.subject.meshMental Retardation, X-Linked-
dc.subject.meshMicrocephaly-
dc.subject.meshMicrosatellite Repeats-
dc.subject.meshPedigree-
dc.subject.meshSyndrome-
dc.subject.meshTesticular Diseases-
dc.titleA new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26en
dc.typeArticleen
dc.contributor.departmentAcademic Department of Medical Genetics and Regional Genetic Services, St Mary's Hospital, University of Manchester, Manchester, UK. deirdre.cilliers@icr.ac.uken
dc.identifier.journalEuropean Journal of Medical Geneticsen

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