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A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.
Eur J Med Genet. 2007 May-Jun; 50(3):216-23.EJ

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.

Authors+Show Affiliations

Academic Department of Medical Genetics and Regional Genetic Services, St Mary's Hospital, University of Manchester, Manchester, UK. deirdre.cilliers@icr.ac.ukNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17369115

Citation

Cilliers, Deirdre D., et al. "A New X-linked Mental Retardation (XLMR) Syndrome With Late-onset Primary Testicular Failure, Short Stature and Microcephaly Maps to Xq25-q26." European Journal of Medical Genetics, vol. 50, no. 3, 2007, pp. 216-23.
Cilliers DD, Parveen R, Clayton P, et al. A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. Eur J Med Genet. 2007;50(3):216-23.
Cilliers, D. D., Parveen, R., Clayton, P., Cairns, S. A., Clarke, S., Shalet, S. M., Black, G. C., Newman, W. G., & Clayton-Smith, J. (2007). A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. European Journal of Medical Genetics, 50(3), 216-23.
Cilliers DD, et al. A New X-linked Mental Retardation (XLMR) Syndrome With Late-onset Primary Testicular Failure, Short Stature and Microcephaly Maps to Xq25-q26. Eur J Med Genet. 2007 May-Jun;50(3):216-23. PubMed PMID: 17369115.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. AU - Cilliers,Deirdre D, AU - Parveen,Rahat, AU - Clayton,Peter, AU - Cairns,Stephen A, AU - Clarke,Sheila, AU - Shalet,Stephen M, AU - Black,Graeme C M, AU - Newman,William G, AU - Clayton-Smith,Jill, Y1 - 2007/01/27/ PY - 2006/10/22/received PY - 2007/01/07/accepted PY - 2007/3/21/pubmed PY - 2007/7/21/medline PY - 2007/3/21/entrez SP - 216 EP - 23 JF - European journal of medical genetics JO - Eur J Med Genet VL - 50 IS - 3 N2 - 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. SN - 1769-7212 UR - https://www.unboundmedicine.com/medline/citation/17369115/A_new_X_linked_mental_retardation__XLMR__syndrome_with_late_onset_primary_testicular_failure_short_stature_and_microcephaly_maps_to_Xq25_q26_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(07)00010-9 DB - PRIME DP - Unbound Medicine ER -