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Article Abstract
Objective: To explore the clinical characteristics and genetic basis of a child with Teebi hypertelorism syndrome 1 (TBHS1).
Methods: A child with TBHS1 who was admitted to the Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine on July 13, 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.
Results: The child, a 13-year-old male, had manifested delayed growth and development. WES results revealed that he has harbored a heterozygous c.1244A>G variant of the SPECC1L gene, which was verified to be de novo in origin. The variant has not been included in the HGMD and gnomAD databases. As predicted by online software including PolyPhen-2, SIFT, and Mutation Taster, the variant may affect the function of protein domain. And PyMOL software has predicted that the structural stability of SPECC1L protein (p.Gln415Arg) might be reduced. Based on the guidelines of the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PM6+PM1+PP4+PM2_Supporting+PP3).
Conclusion: The heterozygous c.1244A>G variant of the SPECC1L gene probably underlay the TBHS1 in this child. Above finding has expanded the genotypic and phenotypic spectrum of the SPECC1L gene and provided a basis for the clinical diagnosis of this child.
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| http://dx.doi.org/10.3760/cma.j.cn511374-20220823-00574 | DOI Listing |
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Allelic variations of Sperm antigen with calponin homology and Coiled-Coil domains 1 Like (SPECC1L) have been associated with a spectrum of cranial-facial pathologies including Teebi hypertelorism and Opitz G/BBB syndrome which manifest as clefting of the palate, wide-eyes, and incomplete closure of the esophagus among others. These pathologies may be indicative of improper cranial neural crest cell (CNCC) delamination and migration. SPECC1L is hypothesized to be an actin-microtubule cross-linking protein as it co-localizes with both microtubules and actin in tissue culture cells.
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[Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
August 2023
Department of Endocrinology and Metabolism, Department of Medical Genetics, Shanghai Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Objective: To explore the clinical characteristics and genetic basis of a child with Teebi hypertelorism syndrome 1 (TBHS1).
Methods: A child with TBHS1 who was admitted to the Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine on July 13, 2021 was selected as the study subject. Clinical data of the child was collected.