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Article

Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.

American journal of medical genetics. Part A - 1 Sept 2014

Kantaputra Piranit Nik, Kaewgahya Massupa, Wiwatwongwana Atchareeya, Wiwatwongwana Damrong, Sittiwangkul Rekwan, Iamaroon Anak, Dejkhamron Prapai

Abstract excerpt

We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and tricuspid valve prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmonary emphysema. Mutation analysis of FBLN5 showed a homozygous c.432C>G missense mutation, and heterozygosity in the...

Read the complete abstract on PubMed

Topics

Adult
Child, Preschool
Conjunctiva
Cutis Laxa
DNA Mutational Analysis
Extracellular Matrix Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Hair

Humans

Infant

Infant, Newborn

Mutation

Nasolacrimal Duct

Pulmonary Emphysema

Radiography, Thoracic

Tomography, X-Ray Computed

Source

Identifiers

PMID: 24962763
DOI: 10.1002/ajmg.a.36630

Genes

FBLN5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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