X‐linked mental retardation with isolated growth hormone deficiency is mapped to Xq22–Xq27.2 in one family

Raynaud, Martine; Ronce, Nathalie; Ayrault, Anne‐Dominique; Francannet, Christine; Malpuech, G; Moraine, Claude

doi:10.1002/(sici)1096-8628(19980319)76:3<255::aid-ajmg10>3.3.co;2-1

Cited by 7 publications

(10 citation statements)

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“…Given this finding, the Xq24 region is tentatively confirmed to be linked to height. In addition, three syndromes with short stature have been mapped to the Xq24 region (Table 4) (Cabezas et al 2000; Hamel et al 1996; Raynaud et al 1998; Vitale et al 2001). Further efforts are necessary to explore the Xq24 region's function in normal height variation.…”

Section: Resultsmentioning

confidence: 99%

“…A variety of syndromes with short stature provide unique models for study of human height development. Studies of these syndromes identified a list of causative genes and genomic regions (Cabezas et al 2000; Gelb et al 1996; Hamel et al 1996; Maheshwari et al 1998; Ramesar et al 1996; Raynaud et al 1998; Shiang et al 1994; Vitale et al 2001), which potentially may be related to normal height variation. Large‐scale whole genome linkage studies of height represent the latest effort of genetic dissection of this complex trait (Deng et al 2002; Hirschhorn et al 2001; Perola et al 2001; Wiltshire et al 2002; Xu et al 2002).…”

Section: Introductionmentioning

confidence: 99%

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Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees

Liu

Shen

et al. 2004

Annals of Human Genetics

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SummaryRecently, we reported a whole genome scan on a sample of 630 Caucasian subjects from 53 human pedigrees. Several genomic regions were suggested to be linked to height. In an attempt to confirm the identified genomic regions, as well as to identify new genomic regions linked to height, we conducted a whole genome linkage study on an extended sample of 1,816 subjects from 79 pedigrees, which includes the 53 pedigrees containing the original 630 subjects from our previous whole genome study and an additional 128 new subjects, and 26 further pedigrees containing 1,058 subjects. Several regions achieved suggestive linkage signals, such as 9q22.32 [MLS (multipoint LOD score) = 2.74], 9q34.3 [MLS = 2.66], Xq24 [two-point LOD score = 2.64 at the marker DXS8067], and 7p14.2 [MLS = 2.05]. The importance of the above regions is supported either by other whole genome studies or by candidate genes within these regions relevant to linear growth or pathogenesis of short stature. In addition, this study has tentatively confirmed the Xq24 region's linkage to height, as this region was also detected in the previous whole genome study. To date, our study has achieved the largest sample size in the field of genetic linkage studies of human height. Together with the findings of other studies, the current study has further delineated the genetic basis of human stature.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees

Liu

Shen

et al. 2004

Annals of Human Genetics

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“…Panhypopituitarism (PHP) (MIM 312000)10 and isolated growth hormone disorder (IGHD) (MIM 300123)11 localise to the same region (fig 5). Both have short stature but neither syndrome includes small testes.…”

Section: Discussionmentioning

confidence: 99%

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

Cabezas¹

2000

Journal of Medical Genetics

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Methods-A large family is described in which mental retardation segregates as an X linked trait. Six aVected males in three generations were studied by linkage and clinical examination. Results-Characteristic clinical features include short stature, prominent lower lip, small testes, muscle wasting of the lower legs, kyphosis, joint hyperextensibility, abnormal gait, tremor, and decreased fine motor coordination. AVected subjects also had impaired speech and decreased attention span. A carrier female was mildly aVected. A similar disorder was not found on review of our XLMR Database of 124 syndromes. Linkage analysis of 37 markers resulted in a lod score of 2.80 at DXS1212 and 2.76 at DXS425. The limiting markers were DXS424 and DXS1047. Ten of 124 XLMR syndromes and eight of 58 MRX families overlap this region. Conclusions-In summary, this family appears to have a new XLMR syndrome localising to Xq24-q25.

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“…Duplications including SOX3 have been associated with variable clinical phenotypes, including X-linked intellectual disability (ID), GHD, X-linked hypopituitarism (XH), SRY-negative 46,XX disorders of sex development (DSD) and neural tube defects (NTD) [27][28][29][30][31][32][33]. The severity of the phenotype is not dependent on the size of the duplication.…”

Section: Discussionmentioning

confidence: 99%

Congenital hypopituitarism in two brothers with a duplication of the ‘acrogigantism gene’ GPR101: clinical findings and review of the literature

et al. 2020

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Purpose Congenital hypopituitarism (CH) can cause significant morbidity or even mortality. In the majority of patients, the etiology of CH is unknown. Understanding the etiology of CH is important for anticipation of clinical problems and for genetic counselling. Our previous studies showed that only a small proportion of cases have mutations in the known ‘CH genes’. In the current project, we present the results of SNP array based copy number variant analysis in a family with unexplained congenital hypopituitarism. Methods DNA samples of two affected brothers with idiopathic CH and their mother were simultaneously analyzed by SNP arrays for copy number variant analysis and Whole Exome Sequencing (WES) for mutation screening. DNA of the father was not available. Results We found a 6 Mb duplication including GPR101 and SOX3 on the X-chromosome (Xq26.2-q27.1) in the two siblings and their mother, leading to 2 copies of this region in the affected boys and 3 copies in the mother. Duplications of GPR101 are associated with X-linked acrogigantism (the phenotypic ‘opposite’ of the affected brothers), whereas alterations in SOX3 are associated with X-linked hypopituitarism. Conclusion In our patients with hypopituitarism we found a 6 Mb duplication which includes GPR101, a gene associated with X- linked gigantism, and SOX3, a gene involved in early pituitary organogenesis that is associated with variable degrees of hypopituitarism. Our findings show that in duplications containing both GPR101 and SOX3, the growth hormone deficiency phenotype is dominant. This suggests that, if GPR101 is duplicated, it might not be expressed phenotypically when early patterning of the embryonic pituitary is affected due to SOX3 duplication. These results, together with the review of the literature, shed a new light on the role of GPR101 and SOX3 in pituitary function.

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X‐linked mental retardation with isolated growth hormone deficiency is mapped to Xq22–Xq27.2 in one family

Cited by 7 publications

References 0 publications

Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees

Genetic Dissection of Human Stature in a Large Sample of Multiplex Pedigrees

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

Congenital hypopituitarism in two brothers with a duplication of the ‘acrogigantism gene’ GPR101: clinical findings and review of the literature

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