Article ; Online: Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type.
Molecular genetics & genomic medicine
2022 Volume 10, Issue 9, Page(s) e2003
Abstract: Background: A range of clinical features have been confirmed with heterozygous mutations in Beta Tubulin (TUBB), including skin creases, facial deformities, abnormal cerebral structures, and intellectual disability, and were defined as Circumferential ... ...
| Abstract | Background: A range of clinical features have been confirmed with heterozygous mutations in Beta Tubulin (TUBB), including skin creases, facial deformities, abnormal cerebral structures, and intellectual disability, and were defined as Circumferential Skin Creases Kunze type (CSC-KT). Methods: Clinical information was obtained retrospectively on a neonate hospitalized in the Neonatal Intensive Care Unit, Wuhan Children's Hospital. Genomic DNA was extracted from circulating leukocytes of the proband according to standard procedures. Results: The neonate presented dyspnea resulting from diaphragmatic paralysis, accompanied by other typical features of CSC-KT. Additionally, exome sequencing confirmed a new variant (NM_178,014. 4: c. 1114 A > G) in TUBB. We also summarized features described in previous cases, thus representing phenotype extension of CSC-KT. Conclusion: Our report is the youngest confirmed case, which could extend the current phenotype of CSC-KT as well as the clinical diagnostic approach. |
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| MeSH term(s) | Heterozygote ; Humans ; Infant, Newborn ; Respiratory Paralysis/genetics ; Retrospective Studies ; Skin ; Tubulin/chemistry ; Tubulin/genetics |
| Chemical Substances | Tubulin |
| Language | English |
| Publishing date | 2022-06-23 |
| Publishing country | United States |
| Document type | Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't |
| ZDB-ID | 2734884-2 |
| ISSN | 2324-9269 ; 2324-9269 |
| ISSN (online) | 2324-9269 |
| ISSN | 2324-9269 |
| DOI | 10.1002/mgg3.2003 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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