Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C.
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SUBMITTER: Gupta N
PROVIDER: S-EPMC7183407 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
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Identification of a Novel 19-bp Deletion Mutation in <i>LTBP4</i> Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C.
Gupta Neerja N Langeh Nitika N Sridharan Aparajit A Kabra Madhulika M
Journal of pediatric genetics 20191022 2
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. ...[more]
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