Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14

Stalman, Susanne E.; Kamp, Gerdine A; Hendriks, Yvonne; Hennekam, Raoul C. M.; Rotteveel, Joost

doi:10.1111/cen.12841

Cited by 15 publications

(13 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The report did not include height velocity data or dosage of growth hormone. A second study prospectively followed the response to growth hormone in 2 patients with Temple syndrome in which both patients had increased height SDS over 1 year of treatment (0.9 and 0.8 height SDS) [19]. Another study published growth curves for 8 patients with Temple syndrome who were treated with growth hormone [12].…”

Section: Discussionmentioning

confidence: 99%

“…The overlap with SRS is also used as a rationale for growth hormone treatment following the SRS consensus [18]. However, to date, there are only 12 individuals reported in the literature who have been treated with growth hormone [8, 12, 19, 20]. Of these, growth curves were published for 10 individuals, but a quantitative assessment of growth hormone response has not been performed in a cohort of these patients.…”

Section: Introductionmentioning

confidence: 99%

“…Of these, growth curves were published for 10 individuals, but a quantitative assessment of growth hormone response has not been performed in a cohort of these patients. Therefore, there is inadequate evidence to determine whether or not growth hormone treatment improves height outcomes for patients with Temple syndrome [12, 19, 20]. Here, we report a quantitative review of an additional 6 patients with Temple syndrome who were treated with growth hormone and their outcomes to determine whether growth hormone should be recommended as the standard course of treatment.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Brightman

Lokulo-Sodipe

Searle³

et al. 2018

Horm Res Paediatr

View full text Add to dashboard Cite

Background/Aims: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restriction, short stature, hypotonia, small hands and feet and precocious puberty. We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome. Methods: This was a retrospective observational study reviewing the medical records of 14 patients with Temple syndrome, 7 of whom were treated with growth hormone. Results: After 1 year of growth hormone treatment, the height standard deviation score (SDS) increased a median of 1.31 SDS with a median increased height velocity of 5.30 cm/year. Conclusions: These results suggest short-term improvement in height SDS with growth hormone treatment similar to the response in patients treated under the small for gestational age indication. We recommend considering growth hormone therapy in all patients with Temple syndrome who have short stature.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Brightman

Lokulo-Sodipe

Searle³

et al. 2018

Horm Res Paediatr

View full text Add to dashboard Cite

show abstract

“…The exact prevalence of these conditions is unknown, and there are less than 100 cases of TS14, and fewer than 50 cases of mosaic trisomy 14 described in the literature [Ioannides et al, 2014;Salas-Labadia et al, 2014;Kagami et al, 2017]. A mole cularly and cytogenetically confirmed combination of UPD(14)mat and mosaic trisomy 14 have been currently reported only in 8 live-born cases [Antonarakis et al, 1993;Kayashima et al, 2002;Cox et al, 2004;Pecile et al, 2015;Stalman et al, 2015;Balbeur et al, 2016;Zhang et al, 2016;Ushijima et al, 2017].…”

mentioning

confidence: 99%

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

Yakoreva¹,

Kahre²,

Pajusalu³

et al. 2018

Mol Syndromol

View full text Add to dashboard Cite

Temple syndrome (TS14) is a relatively recently discovered imprinting disorder caused by abnormal expression of genes at the locus 14q32. The underlying cause of this syndrome is maternal uniparental disomy of chromosome 14 (UPD(14)mat). Trisomy of chromosome 14 is one of the autosomal trisomies; in humans, it is only compatible with live birth in mosaic form. Although UPD(14)mat and mosaic trisomy 14 can arise from the same cellular mechanism, a combination of both has been currently reported only in 8 live-born cases. Hereby, we describe a patient in whom only UPD(14)mat-associated TS14 was primarily diagnosed. Due to the patient's atypical features (for TS14), additional analyses were performed and low-percent mosaic trisomy 14 was detected. It can be expected that the described combination of 2 etiologically related conditions is actually more prevalent. Additional chromosomal and molecular investigations are indicated for every patient with UPD(14)mat-associated TS14 with atypical clinical presentation.

show abstract

“…There are few reports that have shown 2 cell lines, one with uniparental disomy (UPD) 14 and the other with trisomy 14. This can be explained by trisomy rescue [Antonarakis et al, 1993;Cox et al, 2004;Stalman et al, 2015;Balbeur et al, 2016;Zhang et al, 2016;Ushijima et al, 2018;Yakoreva et al, 2018].…”

mentioning

confidence: 99%

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation

Mohamed

Eid

et al. 2020

Cytogenet Genome Res

View full text Add to dashboard Cite

Trisomy 14 is incompatible with live, but there are several patients reported with mosaic trisomy 14. We aimed to study the pattern of X inactivation and its effect on a translocated autosome and to find out an explanation of the involvement of chromosome 14 in 2 different structural chromosomal abnormalities. We report on a girl with frontal bossing, hypertelorism, low-set ears, micrognathia, cleft palate, congenital heart disease, and abnormal skin pigmentations. The patient displayed iris, choroidal, and retinal coloboma and agenesis of the corpus callosum and cerebellar vermis hypoplasia. Cytogenetic analysis revealed a karyotype 45,X,der(X)t(X;14)(q24;q11)[85]/46,XX,rob(14;14)(q10;q10),+14[35]. Array-CGH for blood and buccal mucosa showed high mosaic trisomy 14 and an Xq deletion. MLPA detected trisomy 14 in blood and buccal mucosa and also showed normal methylation of the imprinting center. FISH analysis confirmed the cell line with trisomy 14 (30%) and demonstrated the mosaic deletion of the Xq subtelomere in both tissues. There was 100% skewed X inactivation for the t(X;14). SNP analysis of the patient showed no region of loss of heterozygosity on chromosome 14. Also, genotype call analysis of the patient and her parents showed heterozygous alleles of chromosome 14 with no evidence of uniparental disomy. Our patient had a severe form of mosaic trisomy 14. We suggest that this cytogenetic unique finding that involved 2 cell lines with structural abnormalities of chromosome 14 occurred in an early postzygotic division. These 2 events may have happened separately or maybe there is a kind of trisomy or monosomy rescue due to dynamic cytogenetic interaction between different cell lines to compensate for gene dosage.

show abstract

Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14

Abstract: GH treatment in matUPD(14) cases can show beneficial effects on growth and body composition if started in time. Larger, international studies to determine detailed effectivity and side effects are suggested.

Cited by 15 publications

References 30 publications

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

A New Case of a Rare Combination of Temple Syndrome and Mosaic Trisomy 14 and a Literature Review

Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation

Contact Info

Product

Resources

About