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Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.
. 2018 04; 176(4):1030-1036.

Abstract

Robinow syndrome (RS) is a well-recognized Mendelian disorder known to demonstrate both autosomal dominant and autosomal recessive inheritance. Typical manifestations include short stature, characteristic facies, and skeletal anomalies. Recessive inheritance has been associated with mutations in ROR2 while dominant inheritance has been observed for mutations in WNT5A, DVL1, and DVL3. Through trio whole genome sequencing, we identified a homozygous frameshifting single nucleotide deletion in WNT5A in a previously reported, deceased infant with a unique constellation of features comprising a 46,XY disorder of sex development with multiple congenital malformations including congenital diaphragmatic hernia, ambiguous genitalia, dysmorphic facies, shortened long bones, adactyly, and ventricular septal defect. The parents, who are both heterozygous for the deletion, appear clinically unaffected. In conjunction with published observations of Wnt5a double knockout mice, we provide evidence for the possibility of autosomal recessive inheritance in association with WNT5A loss-of-function mutations in RS.

Authors+Show Affiliations

Department of Computer Science, Stanford University, Stanford, California.Department of Genetics, Stanford University School of Medicine, Stanford, California.Department of Computer Science, Stanford University, Stanford, California.Department of Pediatrics, Stanford University School of Medicine, Stanford, California.Department of Pediatrics, Stanford University School of Medicine, Stanford, California.Department of Genetics, Stanford University School of Medicine, Stanford, California. Stanford Center for Genomics and Personalized Medicine, Stanford University, Stanford, California.Department of Pediatrics, Stanford University School of Medicine, Stanford, California.Department of Computer Science, Stanford University, Stanford, California. Department of Pediatrics, Stanford University School of Medicine, Stanford, California. Department of Developmental Biology, Stanford University, Stanford, California.Department of Pediatrics, Stanford University School of Medicine, Stanford, California.

Pub Type(s)

Case Reports
Journal Article
Research Support, N.I.H., Extramural

Language

eng

PubMed ID

29575631

Citation

Birgmeier, Johannes, et al. "Biallelic Loss-of-function WNT5A Mutations in an Infant With Severe and Atypical Manifestations of Robinow Syndrome." American Journal of Medical Genetics. Part A, vol. 176, no. 4, 2018, pp. 1030-1036.
Birgmeier J, Esplin ED, Jagadeesh KA, et al. Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. Am J Med Genet A. 2018;176(4):1030-1036.
Birgmeier, J., Esplin, E. D., Jagadeesh, K. A., Guturu, H., Wenger, A. M., Chaib, H., Buckingham, J. A., Bejerano, G., & Bernstein, J. A. (2018). Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. American Journal of Medical Genetics. Part A, 176(4), 1030-1036. https://doi.org/10.1002/ajmg.a.38636
Birgmeier J, et al. Biallelic Loss-of-function WNT5A Mutations in an Infant With Severe and Atypical Manifestations of Robinow Syndrome. Am J Med Genet A. 2018;176(4):1030-1036. PubMed PMID: 29575631.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome. AU - Birgmeier,Johannes, AU - Esplin,Edward D, AU - Jagadeesh,Karthik A, AU - Guturu,Harendra, AU - Wenger,Aaron M, AU - Chaib,Hassan, AU - Buckingham,Julia A, AU - Bejerano,Gill, AU - Bernstein,Jonathan A, PY - 2017/10/13/received PY - 2017/12/19/revised PY - 2018/01/21/accepted PY - 2018/3/26/entrez PY - 2018/3/27/pubmed PY - 2019/3/1/medline KW - Robinow syndrome KW - WNT5A KW - Wnt signaling pathway KW - autosomal recessive SP - 1030 EP - 1036 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 176 IS - 4 N2 - Robinow syndrome (RS) is a well-recognized Mendelian disorder known to demonstrate both autosomal dominant and autosomal recessive inheritance. Typical manifestations include short stature, characteristic facies, and skeletal anomalies. Recessive inheritance has been associated with mutations in ROR2 while dominant inheritance has been observed for mutations in WNT5A, DVL1, and DVL3. Through trio whole genome sequencing, we identified a homozygous frameshifting single nucleotide deletion in WNT5A in a previously reported, deceased infant with a unique constellation of features comprising a 46,XY disorder of sex development with multiple congenital malformations including congenital diaphragmatic hernia, ambiguous genitalia, dysmorphic facies, shortened long bones, adactyly, and ventricular septal defect. The parents, who are both heterozygous for the deletion, appear clinically unaffected. In conjunction with published observations of Wnt5a double knockout mice, we provide evidence for the possibility of autosomal recessive inheritance in association with WNT5A loss-of-function mutations in RS. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/29575631/Biallelic_loss_of_function_WNT5A_mutations_in_an_infant_with_severe_and_atypical_manifestations_of_Robinow_syndrome_ L2 - https://doi.org/10.1002/ajmg.a.38636 DB - PRIME DP - Unbound Medicine ER -