Growth hormone deficiency and empty sella syndrome in a boy with dup(x)(q13.3→q21.2)

Yokoyama, Yuji; Narahara, Kouji; Tsuji, Kyoko; Moriwake, Toshio; Kanzaki, Sho; Murakami, M; Namba, Hiroshi; Ninomiya, Shinsuke; Higuchi, Joji; Seino, Yoshiki

doi:10.1002/ajmg.1320420506

Cited by 44 publications

(31 citation statements)

References 12 publications

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“…Some cases of X-linked statural deficit with involvement of the somatotropic system have been found to be associated with chromosomal duplications [Thode et al, 1988;Yokoyama et al, 1992], but localization of the corresponding duplicated X regions (Xq13.1-q21.1 and Xq13.3-q21.2, respectively) does not support the localization reported in our linkage study (Xq22-q27.2). Variable degrees of hypopituitarism and mild mental retardation have been reported in a family with Xlinked recessive panhypopituitarism (XPH) [Lagerström-Fermer et al, 1997].…”

Section: Discussioncontrasting

confidence: 99%

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

Raynaud¹,

Ronce²,

Ayrault³

et al. 1998

Am. J. Med. Genet.

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X-linked mental retardation (XLMR) includes distinct entities in which mental deficiency is either associated with specific abnormalities (syndromal) or not (nonsyndromal). We report on the clinical, neuropsychological, and laboratory findings and linkage analysis in one family with XLMR and isolated growth hormone deficiency (IGHD). Mental retardation was associated in 3 males and 5 females with short stature, microcephaly, and particular facial traits, i.e., high curved forehead, midface hypoplasia, and concave nasal bridge with nasal end of normal size and broad traits. Significant lod scores (Zmax >2) at a recombination fraction of theta = 0 were detected for 6 marker loci between DXS178 (Xq22.1) and DXS292 (Xq27.2). This mapping region overlaps that of XLMR with IGHD, recently reported by Hamel et al. [1996: Am J Med Genet 64:35-41] (Xq24-q27.3), and that of agammaglobulinemia with IGHD (Xq21.33-q22.2). This observation may confirm the suspicion of a gene involved in growth hormone regulation being localized in Xq.

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Section: Discussioncontrasting

confidence: 99%

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

Raynaud¹,

Ronce²,

Ayrault³

et al. 1998

Am. J. Med. Genet.

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“…[19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34] Yet, interstitial duplication encompassing the Xq27.3-Xq28 region has been reported in only three patients. 35,36 The probands were males and duplication was detected using routine cytogenetic analysis.…”

Section: Discussionmentioning

confidence: 99%

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

et al. 2009

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“…Such disorders would explain the excess of affected males relative to females observed with IGHD. Further evidence of the presence of several loci on the X chromosome involved in GH regulation comes from the description of some patients with IGHD and associated chromosomal abnormalities involving the X chromosome, including an interstitial deletion of Xp22.3 and a duplication of Xql 3.3-q21.2 [41,42],…”

Section: Ighd IIImentioning

confidence: 99%

Molecular Basis of Familial Growth Hormone Deficiency

Jurado

Argente

1994

Horm Res

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A significant proportion of cases of GH deficiency (5-30%) may be due to genetic causes. At least four Mendelian types of isolated GH deficiency (IGHD) have been delineated based on the mode of inheritance and the degree of GH deficiency: IGHD type I A, autosomal recessive with absent endogenous GH; type IB, autosomal recessive with diminished GH; type II, autosomal dominant with diminished GH; and type III, X-linked with diminished GH. Most patients with IGHD type IA have heterogeneous deletions, ranging in size from 6.7 kb to 45 kb, that encompass the entire gene encoding for pituitary GH, GH-1. Nonsense, frameshift and splice GH-1 mutations that predict a complete lack of bioactive GH synthesis in homozygotes have also been reported in association with IGHD IA. Additionally, some cases of IGHD type II have dominant negative mutations in one allele of the GH-1 gene. Panhypopituitary Dwarfism (PD), a condition characterized by deficiency of at least other pituitary trophic hormone in addition to GH deficiency, can have autosomal and X-linked modes of inheritance. Interestingly, both recessive and dominant mutations at the gene encoding for the pituitary transcription factor Pit-1 have been found in a specific subtype of PD that combines GH, prolactin and TSH deficiencies.In contrast, the loci and mutations responsible for the other Mendelian forms of IGHD and PD remain unknown. Linkage studies using genetic markers have excluded the GH locus on chromosome 17 in ∼ 50% of the cases and the GH-releasing hormone (GHRH) locus on chromosome 20 in all the studied families (types IB and II) in whom the mutation cannot be traced to defects in these genes. Furthermore, several uncharacterized loci on the X chromosome must be required for normal GH secretion. In summary, genetic studies have provided a better understanding of the mechanism of GH deficiency as well as new tools for specific diagnosis of several forms of IGHD and PD. However, isolation and evaluation of other genes involved in GH secretion is still necessary. Several possible candidate genes have been recently cloned and characterized, including genes encoding the human GHRH receptor, the pituitary adenylate cyclase activating polypeptide (PACAP) and the PACAP receptor. Analysis of these genes in IGHD and PD families may clarify the molecular basis of the defect and also provide new insights into the complex regulation of GH.

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Growth hormone deficiency and empty sella syndrome in a boy with dup(x)(q13.3→q21.2)

Cited by 44 publications

References 12 publications

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

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

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Molecular Basis of Familial Growth Hormone Deficiency

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