Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A

American Journal of Medical Genetics, Part A

Volumn 170, Issue 12, 2016, Pages 3343-3346

  Jay, Allison M ^a   Conway, Robert L ^b   Thiffault, Isabelle ^c   Saunders, Carol ^c   Farrow, Emily ^c   Adams, John ^a   Toriello, Helga V ^d  

^a St John Hospital   (United States)

^b CHILDREN'S HOSPITAL OF MICHIGAN   (United States)

^c CHILDREN S MERCY HOSPITAL   (United States)

^d SPECTRUM HEALTH   (United States)

Author keywords

4H syndrome; leukodystrophy; neonatal progeriod syndrome; POLR3A gene; Wiedemann Rautenstrauch syndrome

Indexed keywords

DNA DIRECTED RNA POLYMERASE III; PROTEIN POLR3A; UNCLASSIFIED DRUG; POLR3A PROTEIN, HUMAN;

ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD DEATH; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; FOOT MALFORMATION; FRONTAL BOSSING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HELLP SYNDROME; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; MICROGNATHIA; NEONATAL PROGEROID SYNDROME; PHYSICAL EXAMINATION; POLR3A GENE; PREMATURE LABOR; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SKULL MALFORMATION; ABNORMALITIES, MULTIPLE; ALLELE; AMINO ACID SUBSTITUTION; FETAL GROWTH RETARDATION; GENE DELETION; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; PHENOTYPE; PRENATAL DIAGNOSIS; PROGERIA;

ABNORMALITIES, MULTIPLE; ALLELES; AMINO ACID SUBSTITUTION; FEMALE; FETAL GROWTH RETARDATION; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; PHENOTYPE; PRENATAL DIAGNOSIS; PROGERIA; RNA POLYMERASE III; SEQUENCE DELETION;

EID: 84992588878     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37960     Document Type: Article

References (17)

1. Arboleda G, Morales LC, Quintero L, Arboleda H. 2011. Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome): Report of three affected sibs. Am J Med Genet Part A 155A:1712–1715.
2. Arboleda H, Arboleda G. 2005. Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient “G”. Birth Defects Res A Clin Mol Teratol 73:562–568.
3. Becerra CH, Contreras-Garcia GA, Perez Vera LA, Diaz-Martinez LA, Beltran Avendano MA, Salazar Martinez HA. 2014. Wiedemann-Rautenstrauch syndrome prenatal diagnosis. J Perinatol 34:954–956.
4. Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G, Clement I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. 2011. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet 89:415–423.
5. Castineyra G, Panal M, Lopez Presas H, Goldschmidt E, Sanchez JM. 1992. Two sibs with Wiedemann-Rautenstrauch syndrome: Possibilities of prenatal diagnosis by ultrasound. J Med Genet 29:434–436.
6. Hennekam RCM, Allanson JE, Krantz ID. 2010. Gorlin's syndromes of the head and neck. New York, NY: Oxford University Press.
7. Kiraz A, Ozen S, Tubas F, Usta Y, Aldemir O, Alanay Y. 2012. Wiedemann-Rautenstrauch syndrome: Report of a variant case. Am J Med Genet Part A 158A:1434–1436.
8. Korniszewski L, Nowak R, Okninska-Hoffmann E, Skorka A, Gieruszczak-Bialek D, Sawadro-Rochowska M. 2001. Wiedemann-Rautenstrauch (neonatal progeroid) syndrome: New case with normal telomere length in skin fibroblasts. Am J Med Genet 103:144–148.
9. La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Ounap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-The B, Patel C, Cox H, Atik T, Onay H, Ozkinay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G. 2016. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 86:1622–1626.
10. Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH, Fowlkes JL, Sanders LP, O'Brien JM, Carroll GS, Gunther WM, Morrow HG, Burghen GA, Ward JC. 2000. Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: Report of five new cases and review. Am J Med Genet 90:131–140.
11. Rautenstrauch T, Snigula F. 1977. Progeria: A cell culture study and clinical report of familial incidence. Eur J Pediatr 124:101–111.
12. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. 2015. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405–424.
13. Saunders CJ, Miller NA, Soden SE, Dinwiddie DL, Noll A, Alnadi NA, Andraws N, Patterson ML, Krivohlavek LA, Fellis J, Humphray S, Saffrey P, Kingsbury Z, Weir JC, Betley J, Grocock RJ, Margulies EH, Farrow EG, Artman M, Safina NP, Petrikin JE, Hall KP, Kingsmore SF. 2012. Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci Transl Med 4:154ra135.
14. Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF. 2014. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med 6:168.
15. Thorey F, Jager M, Seller K, Krauspe R, Wild A. 2003. [Kyphoscoliosis in Wiedemann-Rautenstrauch-syndrome (neonatal progeroid syndrome)]. Z Orthop Ihre Grenzgeb 141:341–344.
16. Wiedemann HR. 1979. An unidentified neonatal progeroid syndrome: Follow-up report. Eur J Pediatr 130:65–70.
17. Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Stromme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G. 2014. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3 B mutations. Neurology 83:1898–1905.