Medicine:Temple syndrome
From HandWiki
| Temple syndrome | |
|---|---|
| Other names | TS, TS14 |
 | |
| A photo showing person with Temple syndrome, with small hands, short philtrum and a broad nose. | |
| Specialty | Medical genetics |
| Symptoms | Hypotonia, motor delay, precocious puberty, small hands, short feet, intrauterine growth restriction |
| Causes | Chromosomal nondisjunction, genetic mutations |
| Diagnostic method | Genetic testing |
| Differential diagnosis | Prader-Willi Syndrome, Silver–Russell syndrome[1] |
Temple syndrome is a rare genetic disorder that is caused by mutations in paternal chromosome 14 or by maternal UPD(14).[2] The signs of this syndrome are oligohydramnios, intrauterine growth restriction, small placenta, low birth weight and length, hypotonia, motor and speech delay, joint laxity, clinodactyly, kyphoscoliosis, precocious puberty, obesity and the facial signs are: trigonocephaly, depressed nasal bridge, broad nose, small jaw, high-arched palate.[3]
Symptoms
The symptoms of this syndrome are:[4]
Very frequent
- Hypotonia
- Motor delay
- Precocious puberty
- Small hand
- Short foot
- Intrauterine Growth Restriction
Frequent
- Delayed speech
- Feeding difficulties
- Mild intellectual disability
- Obesity
- Premature birth
- Short stature
Occasional
- Undescended testis
- Polyphagia
- Scoliosis
- Type II diabetes
Very rare
- Bifid uvula
- Clinodactyly
- Frontal bossing
- Hydrocephalus
- Pointed chin
- Recurrent hypoglycaemia
Cause
There are three main mechanisms that can cause Temple syndrome:[3]
- Maternal unipaternal disomy of chromosome 14 (in 60-75% cases): That phenomenon can be caused by trisomy rescue. Maternal UPD arises from nondisjunction in oocyte and causes trisomy when it gets fertilised, there will be 3 chromosomes(trisomy) which is fatal most of the times, so one of the chromosome gets lost and it can get two results: biparental contribution of chromosome or maternal heterodisomy. Last one can cause Temple Syndrome.[5][3]
- Epimutaion (in 10-20% cases): Epimutation is a phenomenon when DNA gets mutated although it doesn’t change coding sequence.[6] The genes on Paternal Chromosome 14 gets hypomethylated and subsequently causes silencing of those genes.[7]
- Deletion of the 14q32.2 region (in 5-15% cases): Cases when 14q32.2 region gets deleted is the rarest. In that case part of Paternal chromosome 14 gets deleted.[8]
The genes which mutations are responsible for causing this syndrome are DLK1 and RTL1.[9] DIO3 mutation is also associated with Temple syndrome.[10]
Diagnosis
Temple syndrome can be suspected by combination of symptoms and diagnosis confirmed through genetic testing.[11]
Treatment
There is no cure for this disease, but symptomatic management is available.[12]
Prognosis
The prognosis of this disease is unclarified.[12]
History
Temple Syndrome was first described by I K Temple in 1991.[13]
References
- ↑ "Molecular and clinical studies in 8 patients with Temple syndrome". doi:10.1111/cge.13244. https://pure.rug.nl/ws/portalfiles/portal/59393940/Gillessen_Kaesbach_et_al_2018_Clinical_Genetics.pdf.
- ↑ Juriaans, Alicia F.; Kerkhof, Gerthe F.; Mahabier, Eva F.; Sas, Theo C. J.; Zwaveling-Soonawala, Nitash; Touwslager, Robbert N. H.; Rotteveel, Joost; Hokken-Koelega, Anita C. S. (January 2022). "Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients" (in en). Journal of Clinical Medicine 11 (21): 6289. doi:10.3390/jcm11216289. ISSN 2077-0383. PMID 36362517.
- ↑ 3.0 3.1 3.2 Prasasya, Rexxi; Grotheer, Kristen V; Siracusa, Linda D; Bartolomei, Marisa S (2020-09-30). "Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms". Human Molecular Genetics 29 (R1): R107–R116. doi:10.1093/hmg/ddaa133. ISSN 0964-6906. PMID 32592473. PMC 8325017. https://academic.oup.com/hmg/article/29/R1/R107/5863943.
- ↑ "Orphanet: Clinical signs and symptoms". https://www.orpha.net/en/disease/sign/254516.
- ↑ Shaffer, Lisa G; Agan, Noelle; Goldberg, James D; Ledbetter, David H; Longshore, John W; Cassidy, Suzanne B (May 2001). "American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy" (in en). Genetics in Medicine 3 (3): 206–211. doi:10.1097/00125817-200105000-00011. ISSN 1098-3600. PMID 11388763.
- ↑ "Epimutation" (in en). 2011-02-02. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/epimutation.
- ↑ Ioannides, Yiannis; Lokulo-Sodipe, Kemi; Mackay, Deborah J. G.; Davies, Justin H.; Temple, I. Karen (2014-08-01). "Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases" (in en). Journal of Medical Genetics 51 (8): 495–501. doi:10.1136/jmedgenet-2014-102396. ISSN 0022-2593. PMID 24891339. https://jmg.bmj.com/content/51/8/495.
- ↑ Baena, Neus; Monk, David; Aguilera, Cinthia; Fraga, Mario F.; Fernández, Agustín F.; Gabau, Elisabeth; Corripio, Raquel; Capdevila, Nuria et al. (2024-05-07). "Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome". Clinical Epigenetics 16 (1): 62. doi:10.1186/s13148-024-01652-8. ISSN 1868-7083. PMID 38715103.
- ↑ Beygo, Jasmin; Mertel, Claudia; Kaya, Sabine; Gillessen-Kaesbach, Gabriele; Eggermann, Thomas; Horsthemke, Bernhard; Buiting, Karin (2018-08-03). "The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders". Epigenetics 13 (8): 822–828. doi:10.1080/15592294.2018.1514233. ISSN 1559-2294. PMID 30227764.
- ↑ Martinez, Maria Elena; Cox, David F.; Youth, Brian P.; Hernandez, Arturo (November 2016). "Genomic imprinting of DIO3, a candidate gene for the syndrome associated with human uniparental disomy of chromosome 14" (in en). European Journal of Human Genetics 24 (11): 1617–1621. doi:10.1038/ejhg.2016.66. ISSN 1476-5438. PMID 27329732.
- ↑ Ogawa, Tomoe; Narusawa, Hiromune; Nagasaki, Keisuke; Kosaki, Rika; Naiki, Yasuhiro; Aramaki, Michihiko; Matsubara, Keiko; Nakamura, Akie et al. (2024-12-18). "Temple Syndrome: Comprehensive Clinical Study in Genetically Confirmed 60 Japanese Patients". The Journal of Clinical Endocrinology & Metabolism. doi:10.1210/clinem/dgae883. ISSN 0021-972X. PMID 39693239.
- ↑ 12.0 12.1 Kimura, Takuro; Kagami, Masayo; Matsubara, Keiko; Yatsuga, Shuichi; Mukasa, Rio; Yatsuga, Chiho; Matsumoto, Takako; Koga, Yasutoshi (2019). "Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder" (in en). Clinical Case Reports 7 (1): 15–18. doi:10.1002/ccr3.1895. ISSN 2050-0904. PMID 30655999.
- ↑ Temple, I. K.; Cockwell, A.; Hassold, T.; Pettay, D.; Jacobs, P. (1991-08-01). "Maternal uniparental disomy for chromosome 14." (in en). Journal of Medical Genetics 28 (8): 511–514. doi:10.1136/jmg.28.8.511. ISSN 0022-2593. PMID 1681108. PMC 1016977. https://jmg.bmj.com/content/28/8/511.long.
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