Maternal UPD14 or Temple Syndrome, is characterised by:
- Poor growth during pregnancy and after delivery,
- Low muscle tone (hypotonia),
- Joint laxity,
- Motor delay,
- Early onset of puberty,
- Minor dysmorphic features of the face, hands, and feet 3.
- Short stature
- Scoliosis (bend in the spine)
Genetic Causes
There is good evidence that Temple syndrome is due to a change in the expression (activation) of genes at one specific location (locus) on chromosome 14.
Temple syndrome can be caused by a person having both copies of chromosome 14 from the mother (maternal UPD of chromosome 14) or an isolated methylation (silencing mechanism) deficit at chromosome 14.
References for Maternal and Paternal uniparental disomy of chromosome 14
- Kagami M, Sekita Y, Nishimura G, Irie M, Kato F, Okada M, Yamamori S, Kishimoto H, Nakayama M, Tanaka Y, Matsuoka K, Takahashi T, Noguchi M, Tanaka Y, Masumoto K, Utsunomiya T, Kouzan H, Komatsu Y, Ohashi H, Kurosawa K, Kosaki K, Ferguson-Smith AC, Ishino F, Ogata TDeletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet. 2008 Feb;40(2):237-42. Epub 2008 Jan 6.
- Wang JCC, Passage MB, Yen PH, Shapiro LJ, Mohandas TK. Uniparental Heterodisomy for Chromosome-14 in A Phenotypically Abnormal Familial Balanced 13/14 Robertsonian Translocation Carrier. American Journal of Human Genetics 1991; 48(6):1069-1074.
- Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P. Maternal uniparental disomy for chromosome 14. J Med Genet 1991; 28(8):511-514.
- Sutton VR, Shaffer LG. Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion. American Journal of Medical Genetics 2000; 93(5):381-387.
- Wylie AA, Murphy SK, Orton TC, Jirtle RL. Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation. Genome Res 2000; 10(11):1711-1718.
- Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J Med Genet 2007; 44(10):637-640.
- Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S. Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype. Eur J Hum Genet 2008.
- Buiting K, Kanber D, Martin-Subero JI, Lieb W, Terhal P, Albrecht B et al. Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Hum Mutat 2008.