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Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature.
- Source :
-
BMC medical genomics [BMC Med Genomics] 2020 Dec 10; Vol. 13 (1), pp. 183. Date of Electronic Publication: 2020 Dec 10. - Publication Year :
- 2020
-
Abstract
- Background: Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13.<br />Case Presentation: A 28-day-old Chinese infant with generalized cutis laxa accompanied by impaired pulmonary, gastrointestinal, genitourinary, retinal hemorrhage, abnormality of coagulation and hyperbilirubinemia was admitted to our hospital. To find out the possible causes of these symptoms, whole-exome sequencing was performed on the infant. Two novel pathogenic frame-shift variants [c.605&#95;606delGT (p.Ser204fs * 8) and c.1719delC (p.Arg574fs * 199)] of the LTBP4 gene associated with ARCL IC were found which was later verified by Sanger sequencing. The pathogenicity of mutations was subsequently assessed by several software programs and databases. In addition, an analytical review on the clinical phenotypes of the disease previously reported in literature was performed.<br />Conclusions: This is the first report of a Chinese infant with ARCL IC in China due to novel pathogenic variations of LTBP4. Our study extends the cutis laxa type IC mutation spectrum as well as the phenotypes associated with the disease in different populations.
- Subjects :
- Asian People genetics
Chromosomes, Human, Pair 19 genetics
Codon, Nonsense
Cutis Laxa ethnology
Female
Heterozygote
Humans
Infant
Infant, Newborn
Latent TGF-beta Binding Proteins chemistry
Latent TGF-beta Binding Proteins physiology
Models, Molecular
Open Reading Frames genetics
Pedigree
Protein Conformation
Pulmonary Emphysema diagnostic imaging
Pulmonary Emphysema genetics
Exome Sequencing
Abnormalities, Multiple genetics
Cutis Laxa genetics
Frameshift Mutation
Latent TGF-beta Binding Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1755-8794
- Volume :
- 13
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- BMC medical genomics
- Publication Type :
- Academic Journal
- Accession number :
- 33302946
- Full Text :
- https://doi.org/10.1186/s12920-020-00842-6