Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel <i>FBLN5</i> mutation

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

doi:10.1002/ajmg.a.36630

Cited by 12 publications

(11 citation statements)

References 31 publications

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“…Callewaert et al and other investigators have reported pulmonary emphysema and vascular complications as two main characteristics of ARCL type I (10,11). However, our case with the novel homozygous mutation has limited segments, with pulmonary emphysema and no vascular involvement.…”

Section: Discussioncontrasting

confidence: 48%

Novel FBLN5 Mutation of Congenital Autosomal Recessive Cutis Laxa With Isolated Right Ventricular Non-Compaction (RVNC): New Findings on Echocardiographic Speckle-Tracking Strain Imaging of RVNC

Rad

Zeinaloo

Kariminejad³

et al. 2016

Iran J Pediatr

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We report on a novel mutation in a two-year-old child with autosomal recessive cutis laxa with severe generalized laxity of the skin, prematurely aged appearance, conjunctival chalasia, episodes of severe rectal prolapse, isolated right ventricular non-compaction, (RVNC), significant pulmonary hypertension at the systemic arterial pressure level, severe tricuspid regurgitation, corpulmonale secondary to recurrent pulmonary infections, and mixed pulmonary fibrosis and emphysema. Next generation sequencing of cutis laxa genes identified a novel homozygous mutation in the FBLN5 gene (homozygous sequence alteration of c.907C > T [p. Gin303*] FBLN5 [ENST00000342058]). Despite severe and generalized disorder in the patient's connective tissues, she had no primary valvar or vascular abnormalities in the heart. Complete speckle-tracking strain imaging (SI) by two-dimensional echocardiography showed decreased systolic longitudinal and transverse strain in the involved segment of the right ventricle (RV).

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Section: Discussioncontrasting

confidence: 48%

Novel FBLN5 Mutation of Congenital Autosomal Recessive Cutis Laxa With Isolated Right Ventricular Non-Compaction (RVNC): New Findings on Echocardiographic Speckle-Tracking Strain Imaging of RVNC

Rad

Zeinaloo

Kariminejad³

et al. 2016

Iran J Pediatr

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“…Hereditary CL includes X‐linked CL (XRCL; MIM: 304150), autosomal dominant CL (ADCL; MIM:123700), and autosomal recessive CL (ARCL). To date, 12 different causative genes have been identified: ATP7A responsible for XRCL (i.e., occipital horn disease) and 11 associated with the two autosomal inheritance patterns, including ATP6V1A , ATP6V1E1 , ELN , FBNL5 , FBNL4 , LTBP4 , ATP6V0A2 , PYCR1 , ALDH18A1 , GORAB , and RIN2 (Basel‐Vanagaite et al, 2009; Baumgartner et al, 2000; Hennies et al, 2008; Kantaputra & Kaewgahya, 2014; Kornak et al, 2008; Markova et al, 2003; Reversade et al, 2009; Urban et al, 2009; Van Damme et al, 2017; Van Damme, Gardeitchik, & Mohamed, 2017; Van Maldergem et al, 1988; Zhang et al, 1999). Of the three genetic forms of CL, ARCL is usually associated with the most severe phenotype and include three main subtypes: ARCL1 caused by FBLN5 (i.e., ARCL1A), EFEMP2/FBLN4 (i.e., ARCL1B) and LTBP4 (i.e., ARCL1C); ARCL2 due to ATP6V0A2 (i.e., ARCL2A), PYCR1 (i.e., ARCL2B), ATP6V1E1 (i.e., ARCL2C) and ATP6V1A (i.e., ARCL2D); and ARCL3 (a.k.a., De Barsy syndrome) caused by ALDH18A1 (i.e., ARCL3A) and PYCR1 (i.e., ARCL3B).…”

Section: Introductionmentioning

confidence: 99%

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A

Morlino

Nardella

Castellana

et al. 2020

American J of Med Genetics Pt A

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ATP6V0A2‐related cutis laxa, also known as autosomal recessive cutis laxa type 2A (ARCL2A), is a subtype of hereditary cutis laxa originally characterized by skin, skeletal, and neurological involvement, and a combined defect of N‐glycosylation and O‐glycosylation. The associated clinical spectrum subsequently expanded to a less severe phenotype dominated by cutaneous involvement. At the moment, ARCL2A was described in a few case reports and series only. An Italian adult woman ARCL2A with a phenotype restricted to skin and the two novel c.3G>C and c.1101dup ATP6V0A2 variants has been reported. A systematic literature review allowed us to identify 69 additional individuals from 64 families. Available data were scrutinized in order to describe the clinical and molecular variability of ARCL2A. About 78.3% of known variants were predicted null alleles, while 11 were missense and 2 affected noncanonical splice sites. Age at ascertainment appeared as the unique phenotypic discriminator with earlier age more commonly associated with facial dysmorphism (p .02), high/cleft palate (p .005), intellectual disability/global developmental delay (p .013), and seizures (p .024). No specific genotype–phenotype correlations were identified. This work confirmed the existence of an attenuated phenotype associated with ATP6V0A2 biallelic variants and offers an updated critique to the clinical and molecular variability of ARCL2A.

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“…The FBLN5-related CL is inherited in an autosomal dominant and recessive manner (Van Maldergem and Loeys, 1993). Autosomal recessive cutis laxa (ARCL), type IA, is more severe than the autosomal dominant form and characterized by loose and wrinkled skin, childhood-onset emphysema, aortic and pulmonary artery stenosis, inguinal hernia, and diverticula of the intestine or bladder (Kantaputra et al, 2014). Here, we report a family with a novel missense mutation in the FBLN5 gene.…”

Section: Introductionmentioning

confidence: 98%

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family

Tekedereli¹,

Demiral²,

Gökçe

et al. 2019

Clinical Dysmorphology

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FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sagging cheeks, loose, wrinkled and redundant skin, emphysema, aorta or pulmonary artery abnormalities, inguinal hernia, and anomalies of internal organs. Homozygous mutations in the FBLN5 gene are responsible for the clinical manifestations. We report a family study of a child with ARCL. FBLN5 genes of the patient and parents were sequenced using next-generation sequencing technologies. Analyses showed that the patient was homozygous for the novel c.518A > G, p.R173H mutation in exon 6 of the FBLN5 gene, whereas the parents were heterozygous. The mutation was found to be 'possibly pathogenic' in bioinformatic analysis. We identified a novel FBLN5 mutation in a CL patient; pedigree and parental genetic analyses suggested ARCL. Our results also suggest that the mutation analysis provides useful evidence to support the clinical diagnosis and define the inheritance mode of CL in an apparently sporadic case. Clin

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

Cited by 12 publications

References 31 publications

Novel FBLN5 Mutation of Congenital Autosomal Recessive Cutis Laxa With Isolated Right Ventricular Non-Compaction (RVNC): New Findings on Echocardiographic Speckle-Tracking Strain Imaging of RVNC

Novel FBLN5 Mutation of Congenital Autosomal Recessive Cutis Laxa With Isolated Right Ventricular Non-Compaction (RVNC): New Findings on Echocardiographic Speckle-Tracking Strain Imaging of RVNC

Review of clinical and molecular variability in autosomal recessive cutis laxa 2A

Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family

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