A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly

Shanyu Pi; Xiao Mao; Hongyu Long; Hua Wang

doi:10.1111/cge.14186

A de novo inframe deletion variant in CAPZA2 tentacle domain with global developmental delay and secondary microcephaly

Clin Genet. 2022 Oct;102(4):355-356. doi: 10.1111/cge.14186. Epub 2022 Jul 20.

Authors

Shanyu Pi¹, Xiao Mao², Hongyu Long¹, Hua Wang²

Affiliations

¹ Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
² Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, China.

PMID: 35856264
DOI: 10.1111/cge.14186

Abstract

(A) Sanger sequencing confirmation and family pedigree for the patient. (B) A schematic representation of transcript and translation showing the positions of all CAPZA2 variants identified.

Publication types

Case Reports
Letter

MeSH terms

CapZ Actin Capping Protein
Developmental Disabilities / complications
Developmental Disabilities / genetics
Humans
Infant
Microcephaly* / complications
Microcephaly* / genetics
Pedigree
Phenotype

Substances

CAPZA2 protein, human
CapZ Actin Capping Protein