Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C

Neerja Gupta; Nitika Langeh; Aparajit Sridharan; Madhulika Kabra

doi:10.1055/s-0039-1698806

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2020; 09(02): 125-131
DOI: 10.1055/s-0039-1698806

Case Report

Georg Thieme Verlag KG Stuttgart · New York

Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C

Authors

Neerja Gupta

¹Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Nitika Langeh

¹Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India
Aparajit Sridharan

²Strand Life Sciences, Bangalore, Karnataka, India
Madhulika Kabra

¹Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India

Abstract

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.

Keywords

LTBP4 - autosomal recessive cutis laxa - latent transforming growth factor

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References

References
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