Open AccessIdentification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C
Author(s) -
Neerja Gupta,
Nitika Langeh,
Aparajit Sridharan,
Madhulika Kabra
Publication year - 2019
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-1698806
Subject(s) - cutis laxa , frameshift mutation , exome sequencing , genetics , mutation , missense mutation , biology , gene duplication , nonsense , nonsense mutation , medicine , gene
Autosomal recessive type I cutis laxa is genetically heterogeneous. Biallelic mutations in latent transforming growth factor β-binding protein 4 (LTBP4; MIM*604710) lead to type 1C cutis laxa due to nonsense, frameshift, single base pair indels, or duplication mutations. In this report, we describe the first Indian family with cutis laxa as a result of a novel 19 base pair homozygous deletion leading to premature termination of short isoform LTBP-4S.