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Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
Clin Genet. 2015; 87(1):80-4.CG

Abstract

Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. Most cases of clinically diagnosed MFDM remain genetically unexplained, and to the best of our knowledge a total of 35 patients, 31 different mutations, 4 deletions, and 6 reports have been published. Our proband was born at 36 weeks gestation with microcephaly, microcrania, cleft palate, severe retrognathia, oral and pharyngeal dysphagia, bilateral proximal radioulnar synostosis, 11 thoracic ribs, abnormal magnetic resonance imaging (MRI) findings including simplified gyral pattern and mild dilatation of the posterior bodies of the lateral ventricles secondary to thinning of the white matter, high-pitched cry due to unilateral vocal cord paralysis, and dysmorphic features. Array comparative genomic hybridization (aCGH) + single nucleotide polymorphism (SNP) analysis identified a likely de novo pathogenic deletion on chromosome 17q21.31, encompassing the EFTUD2 gene. Our case represents the fifth reported proband to have MFDM caused by small deletions involving EFTUD2. All known mutations involving EFTUD2 result in genetic haploinsufficiency, consistent with our proband's case as well. Her phenotypic features both overlap and expand on the clinical features of previously reported cases, and her genetic diagnosis also supports the use of aCGH as a first-tier testing option for this disorder.

Authors+Show Affiliations

Department of Clinical Diagnostics and Genetic Counseling, Ambry Genetics, Aliso Viejo, CA, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Evaluation Study
Journal Article

Language

eng

PubMed ID

24266672

Citation

Gandomi, S K., et al. "Array-CGH Is an Effective First-tier Diagnostic Test for EFTUD2-associated Congenital Mandibulofacial Dysostosis With Microcephaly." Clinical Genetics, vol. 87, no. 1, 2015, pp. 80-4.
Gandomi SK, Parra M, Reeves D, et al. Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly. Clin Genet. 2015;87(1):80-4.
Gandomi, S. K., Parra, M., Reeves, D., Yap, V., & Gau, C. L. (2015). Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly. Clinical Genetics, 87(1), 80-4. https://doi.org/10.1111/cge.12328
Gandomi SK, et al. Array-CGH Is an Effective First-tier Diagnostic Test for EFTUD2-associated Congenital Mandibulofacial Dysostosis With Microcephaly. Clin Genet. 2015;87(1):80-4. PubMed PMID: 24266672.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly. AU - Gandomi,S K, AU - Parra,M, AU - Reeves,D, AU - Yap,V, AU - Gau,C-L, Y1 - 2013/12/20/ PY - 2013/09/13/received PY - 2013/11/15/revised PY - 2013/11/21/accepted PY - 2013/11/26/entrez PY - 2013/11/26/pubmed PY - 2015/8/21/medline KW - MFDM KW - aCGH KW - copy number variations KW - craniofacial KW - first-tier KW - genetic SP - 80 EP - 4 JF - Clinical genetics JO - Clin Genet VL - 87 IS - 1 N2 - Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic features. Most cases of clinically diagnosed MFDM remain genetically unexplained, and to the best of our knowledge a total of 35 patients, 31 different mutations, 4 deletions, and 6 reports have been published. Our proband was born at 36 weeks gestation with microcephaly, microcrania, cleft palate, severe retrognathia, oral and pharyngeal dysphagia, bilateral proximal radioulnar synostosis, 11 thoracic ribs, abnormal magnetic resonance imaging (MRI) findings including simplified gyral pattern and mild dilatation of the posterior bodies of the lateral ventricles secondary to thinning of the white matter, high-pitched cry due to unilateral vocal cord paralysis, and dysmorphic features. Array comparative genomic hybridization (aCGH) + single nucleotide polymorphism (SNP) analysis identified a likely de novo pathogenic deletion on chromosome 17q21.31, encompassing the EFTUD2 gene. Our case represents the fifth reported proband to have MFDM caused by small deletions involving EFTUD2. All known mutations involving EFTUD2 result in genetic haploinsufficiency, consistent with our proband's case as well. Her phenotypic features both overlap and expand on the clinical features of previously reported cases, and her genetic diagnosis also supports the use of aCGH as a first-tier testing option for this disorder. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/24266672/Array_CGH_is_an_effective_first_tier_diagnostic_test_for_EFTUD2_associated_congenital_mandibulofacial_dysostosis_with_microcephaly_ L2 - https://doi.org/10.1111/cge.12328 DB - PRIME DP - Unbound Medicine ER -