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Maternal uniparental disomy of chromosome 14

MedGen UID:
1841563
•Concept ID:
C5680248
•
Disease or Syndrome
Synonyms: maternal uniparental disomy of chromosome 14; maternal uniparental disomy of chromosome type 14; Temple syndrome due to maternal uniparental disomy of chromosome 14; UPD(14)mat
 
Monarch Initiative: MONDO:0019915
Orphanet: ORPHA96184

Definition

A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, hypotonia, motor delay, early puberty, obesity, short adult stature, small hands and feet, mild intellectual disability, and mild dysmorphic facial features (frontal bossing, short nose with wide nasal tip, micrognathia, high palate, short philtrum). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMaternal uniparental disomy of chromosome 14

Professional guidelines

PubMed

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
Juriaans AF, Trueba-Timmermans DJ, Kerkhof GF, Grootjen LN, Walet S, Sas TCJ, Rotteveel J, Zwaveling-Soonawala N, Verrijn Stuart AA, Hokken-Koelega ACS
Horm Res Paediatr 2023;96(5):483-494. Epub 2023 Mar 28 doi: 10.1159/000530420. PMID: 36977395

Recent clinical studies

Etiology

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
Juriaans AF, Trueba-Timmermans DJ, Kerkhof GF, Grootjen LN, Walet S, Sas TCJ, Rotteveel J, Zwaveling-Soonawala N, Verrijn Stuart AA, Hokken-Koelega ACS
Horm Res Paediatr 2023;96(5):483-494. Epub 2023 Mar 28 doi: 10.1159/000530420. PMID: 36977395
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC
Hum Reprod 2021 Jan 25;36(2):506-518. doi: 10.1093/humrep/deaa306. PMID: 33313884
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
Brightman DS, Lokulo-Sodipe O, Searle BA, Mackay DJG, Davies JH, Temple IK, Dauber A
Horm Res Paediatr 2018;90(6):407-413. Epub 2019 Mar 5 doi: 10.1159/000496700. PMID: 30836360
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. PMID: 29659920
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.
Stalman SE, Kamp GA, Hendriks YM, Hennekam RC, Rotteveel J
Clin Endocrinol (Oxf) 2015 Nov;83(5):671-6. Epub 2015 Jul 28 doi: 10.1111/cen.12841. PMID: 26119964

Diagnosis

Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low-level mosaicism for trisomy 14.
Lindgren V, Cobian K, Bhat G
Am J Med Genet A 2021 May;185(5):1538-1543. Epub 2021 Feb 17 doi: 10.1002/ajmg.a.62128. PMID: 33595182
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. PMID: 29659920
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M
J Hum Genet 2018 Mar;63(3):377-381. Epub 2018 Jan 9 doi: 10.1038/s10038-017-0381-z. PMID: 29311684
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.
Stalman SE, Kamp GA, Hendriks YM, Hennekam RC, Rotteveel J
Clin Endocrinol (Oxf) 2015 Nov;83(5):671-6. Epub 2015 Jul 28 doi: 10.1111/cen.12841. PMID: 26119964
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.
Ioannides Y, Lokulo-Sodipe K, Mackay DJ, Davies JH, Temple IK
J Med Genet 2014 Aug;51(8):495-501. Epub 2014 Jun 2 doi: 10.1136/jmedgenet-2014-102396. PMID: 24891339

Therapy

The Effects of 5 Years of Growth Hormone Treatment on Growth and Body Composition in Patients with Temple Syndrome.
Juriaans AF, Trueba-Timmermans DJ, Kerkhof GF, Grootjen LN, Walet S, Sas TCJ, Rotteveel J, Zwaveling-Soonawala N, Verrijn Stuart AA, Hokken-Koelega ACS
Horm Res Paediatr 2023;96(5):483-494. Epub 2023 Mar 28 doi: 10.1159/000530420. PMID: 36977395
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies.
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier ML, Santana L, Honjo RS, Kim CA, de Zegher F, Idkowiak J, Gilligan LC, Arlt W, Funari MFA, Jorge AAL, Mendonca BB, Netchine I, Brito VN, Latronico AC
Hum Reprod 2021 Jan 25;36(2):506-518. doi: 10.1093/humrep/deaa306. PMID: 33313884
Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
Brightman DS, Lokulo-Sodipe O, Searle BA, Mackay DJG, Davies JH, Temple IK, Dauber A
Horm Res Paediatr 2018;90(6):407-413. Epub 2019 Mar 5 doi: 10.1159/000496700. PMID: 30836360
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.
Stalman SE, Kamp GA, Hendriks YM, Hennekam RC, Rotteveel J
Clin Endocrinol (Oxf) 2015 Nov;83(5):671-6. Epub 2015 Jul 28 doi: 10.1111/cen.12841. PMID: 26119964

Clinical prediction guides

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome.
Brightman DS, Lokulo-Sodipe O, Searle BA, Mackay DJG, Davies JH, Temple IK, Dauber A
Horm Res Paediatr 2018;90(6):407-413. Epub 2019 Mar 5 doi: 10.1159/000496700. PMID: 30836360
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E
J Clin Endocrinol Metab 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. PMID: 29659920
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicism.
Ushijima K, Yatsuga S, Matsumoto T, Nakamura A, Fukami M, Kagami M
J Hum Genet 2018 Mar;63(3):377-381. Epub 2018 Jan 9 doi: 10.1038/s10038-017-0381-z. PMID: 29311684
Positive effect of growth hormone treatment in maternal uniparental disomy chromosome 14.
Stalman SE, Kamp GA, Hendriks YM, Hennekam RC, Rotteveel J
Clin Endocrinol (Oxf) 2015 Nov;83(5):671-6. Epub 2015 Jul 28 doi: 10.1111/cen.12841. PMID: 26119964
Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases.
Ioannides Y, Lokulo-Sodipe K, Mackay DJ, Davies JH, Temple IK
J Med Genet 2014 Aug;51(8):495-501. Epub 2014 Jun 2 doi: 10.1136/jmedgenet-2014-102396. PMID: 24891339

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