Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type.

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 f

SUBMITTER: Chun Fang G 

PROVIDER: S-EPMC9482402 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature