A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate

doi:10.1111/cge.13804

. 2020 Sep;98(3):299-302.

doi: 10.1111/cge.13804. Epub 2020 Aug 3.

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate

Ashish R Deshwar¹, Nicole Martin², Patrick Shannon³, David Chitayat^{1

2}

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
² The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
³ Department of Pathology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

PMID: 32621286
DOI: 10.1111/cge.13804

A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate

Ashish R Deshwar et al. Clin Genet. 2020 Sep.

. 2020 Sep;98(3):299-302.

doi: 10.1111/cge.13804. Epub 2020 Aug 3.

Authors

Ashish R Deshwar¹, Nicole Martin², Patrick Shannon³, David Chitayat^{1

2}

Affiliations

¹ Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
² The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
³ Department of Pathology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

PMID: 32621286
DOI: 10.1111/cge.13804

Abstract

Neural tube defects (NTD) are among the most common congenital anomalies, affecting about 1:1000 births. In most cases, the etiology of NTD is multifactorial and the genetic variants associated with them remain largely unknown. There is extensive evidence from animal models over the past two decades implicating SHROOM3 in neural tube formation; however, its exact role in human disease has remained elusive. In this report, we present the first case of a human fetus with a homozygous loss of function variant in SHROOM3. The fetus presents with anencephaly and cleft lip and palate, similar to previously described Shroom3 mouse mutants and is suggestive of a novel monogenic cause of NTD. Our case provides clarification on the contribution of SHROOM3 to human development after decades of model organism research.

Keywords: cleft lip; cleft palate; clinical genetics; neural tube defects.

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References

REFERENCES

1. Bassuk AG, Kibar Z. Genetic basis of neural tube defects. Semin Pediatr Neurol. 2009;16(3):101-110. https://doi.org/10.1016/j.spen.2009.06.001.
1. Wallingford JB. Neural tube closure and neural tube defects: studies in animal models reveal known knowns and known unknowns. Am J Med Genet-Semin Med Genet. 2005;135 C(1):59-68. https://doi.org/10.1002/ajmg.c.30054.
1. Copp AJ, Greene NDE. Genetics and development of neural tube defects. J Pathol. 2009;220(2):217-230. https://doi.org/10.1002/path.2643.
1. Greene NDE, Copp AJ. Neural tube defects. Annu Rev Neurosci. 2014;37(1):221-242. https://doi.org/10.1146/annurev-neuro-062012-170354.
1. Kennedy D, Chitayat D, Winsor EJT, Silver M, Toi A. Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet. 1998;77(4):317-321. https://doi.org/10.1002/(SICI)1096-8628(19980526)77:4<317::AID-AJMG13>3.0.CO;2-L.

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[1] Bassuk AG, Kibar Z. Genetic basis of neural tube defects. Semin Pediatr Neurol. 2009;16(3):101-110. https://doi.org/10.1016/j.spen.2009.06.001.

[2] Bassuk AG, Kibar Z. Genetic basis of neural tube defects. Semin Pediatr Neurol. 2009;16(3):101-110. https://doi.org/10.1016/j.spen.2009.06.001.

[3] Wallingford JB. Neural tube closure and neural tube defects: studies in animal models reveal known knowns and known unknowns. Am J Med Genet-Semin Med Genet. 2005;135 C(1):59-68. https://doi.org/10.1002/ajmg.c.30054.

[4] Wallingford JB. Neural tube closure and neural tube defects: studies in animal models reveal known knowns and known unknowns. Am J Med Genet-Semin Med Genet. 2005;135 C(1):59-68. https://doi.org/10.1002/ajmg.c.30054.

[5] Copp AJ, Greene NDE. Genetics and development of neural tube defects. J Pathol. 2009;220(2):217-230. https://doi.org/10.1002/path.2643.

[6] Copp AJ, Greene NDE. Genetics and development of neural tube defects. J Pathol. 2009;220(2):217-230. https://doi.org/10.1002/path.2643.

[7] Greene NDE, Copp AJ. Neural tube defects. Annu Rev Neurosci. 2014;37(1):221-242. https://doi.org/10.1146/annurev-neuro-062012-170354.

[8] Greene NDE, Copp AJ. Neural tube defects. Annu Rev Neurosci. 2014;37(1):221-242. https://doi.org/10.1146/annurev-neuro-062012-170354.

[9] Kennedy D, Chitayat D, Winsor EJT, Silver M, Toi A. Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet. 1998;77(4):317-321. https://doi.org/10.1002/(SICI)1096-8628(19980526)77:4<317::AID-AJMG13>3.0.CO;2-L.

[10] Kennedy D, Chitayat D, Winsor EJT, Silver M, Toi A. Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases. Am J Med Genet. 1998;77(4):317-321. https://doi.org/10.1002/(SICI)1096-8628(19980526)77:4<317::AID-AJMG13>3.0.CO;2-L.

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A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate

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A homozygous pathogenic variant in SHROOM3 associated with anencephaly and cleft lip and palate

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