RESUMEN
BACKGROUND: Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13. CASE PRESENTATION: A 28-day-old Chinese infant with generalized cutis laxa accompanied by impaired pulmonary, gastrointestinal, genitourinary, retinal hemorrhage, abnormality of coagulation and hyperbilirubinemia was admitted to our hospital. To find out the possible causes of these symptoms, whole-exome sequencing was performed on the infant. Two novel pathogenic frame-shift variants [c.605_606delGT (p.Ser204fs * 8) and c.1719delC (p.Arg574fs * 199)] of the LTBP4 gene associated with ARCL IC were found which was later verified by Sanger sequencing. The pathogenicity of mutations was subsequently assessed by several software programs and databases. In addition, an analytical review on the clinical phenotypes of the disease previously reported in literature was performed. CONCLUSIONS: This is the first report of a Chinese infant with ARCL IC in China due to novel pathogenic variations of LTBP4. Our study extends the cutis laxa type IC mutation spectrum as well as the phenotypes associated with the disease in different populations.
Asunto(s)
Anomalías Múltiples/genética , Cutis Laxo/genética , Mutación del Sistema de Lectura , Proteínas de Unión a TGF-beta Latente/genética , Pueblo Asiatico/genética , Cromosomas Humanos Par 19/genética , Codón sin Sentido , Cutis Laxo/etnología , Femenino , Heterocigoto , Humanos , Lactante , Recién Nacido , Proteínas de Unión a TGF-beta Latente/química , Proteínas de Unión a TGF-beta Latente/fisiología , Modelos Moleculares , Sistemas de Lectura Abierta/genética , Linaje , Conformación Proteica , Enfisema Pulmonar/diagnóstico por imagen , Enfisema Pulmonar/genética , Secuenciación del ExomaRESUMEN
Cutis laxa is a heterogeneous group of disorders with variable phenotypes and inheritance patterns. Type II cutis laxa has features overlapping with wrinkly skin syndrome, as a result of which they are regarded as one disorder with a variable spectrum of severity by some authors. To overcome this existing confusion, we present three patients with cutis laxa type II and review the literature to highlight the important differentiating features between cutis laxa type II and wrinkly skin syndrome.