Résumé
OBJECTIVE@#To carried out prenatal diagnosis and genetic analysis for a case with Nail-patella syndrome.@*METHODS@#Based on the clinical phenotype and prenatal imaging, genetic testing and prenatal diagnosis were carried out through whole exome sequencing (WES) and Sanger sequencing.@*RESULTS@#Analysis of amniotic fluid showed that the fetus has carried a heterozygous c.139+1G>T splicing site variant [Chr9(GRCh37): g.129376868G>T] of the LMX1B gene, which was verified by Sanger sequencing. The same heterozygous variant was found in the pregnant woman, her daughter and her mother but not in her husband. Searching of HGMD database showed that the c.139+1G>T was previously unreported.@*CONCLUSION@#Nail-patella syndrome is an autosomal dominant genetic disorder with various clinical manifestations. WES is helpful for its genetic and prenatal diagnosis.
Sujets)
Femelle , Humains , Grossesse , Hétérozygote , Mutation , Syndrome nail-patella/génétique , Pedigree , Diagnostic prénatal ,Sujets)
Arthralgie/diagnostic , Arthralgie/imagerie diagnostique , Enfant , Évolution de la maladie , Femelle , Études de suivi , Humains , Inde , Articulation du genou , Syndrome nail-patella/diagnostic , Syndrome nail-patella/génétique , Syndrome nail-patella/imagerie diagnostique , Mesure de la douleur , Maladies rares , Indice de gravité de la maladieRésumé
The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A 17-year-old girl visited our clinic for the evaluation and treatment of proteinuria. She had dystrophic nails, palpable iliac horns, and hypoplastic patellae. Electron microscopy of a renal biopsy showed irregular thickening of the glomerular basement membrane. A family history over three generations revealed five affected family members. Genetic analysis found a change of TCG to TCC, resulting in a synonymous alteration at codon 219 in exon 4 of the LMX1B gene in two affected family members. The same alteration was not detected in an unaffected family member. This is the first report of familial nail-patella syndrome associated with an LMX1B in Korea mutation, However, we can not completely rule out the possibility that the G-to-C change may be a single nucleotide polymorphism as this genetic mutation cause no alteration in amino acid sequence of LMX1B.
Sujets)
Adolescent , Femelle , Humains , Protéines à homéodomaine/génétique , Mutation , Syndrome nail-patella/génétique , Facteurs de transcription/génétiqueRésumé
A síndrome unha-patela (SUP) é uma condiçao rara com padrao de herança autossômica dominante que se caracteriza pela tétrade: displasia ungueal, hipoplasia ou agenesia de patela, displasia do cotovelo e esporoes ósseos no íliaco. As principais complicaçoes da USP consistem nas deformidades esqueléticas e na nefropatia. Aproximadamente, 45 por cento dos pacientes com hipoplasia da patela necessitarao de cirurgia para o realinhamento desta. A doença renal pode estar associada à SUP, embora a maioria dos pacientes seja assintomática e apresente somente proteinúria. Foram estudadas duas famílias: uma com um caso esporádico e uma com três afetados pela SUP.
Sujets)
Enfant , Enfant d'âge préscolaire , Adulte , Famille , Syndrome nail-patella/génétique , Coude/malformations , Genou/malformations , OnychopathiesRésumé
El síndrome onico-patelar es un cuadro genético autosómico dominante con una expresividad variable que afecta tejido de origen ectodérmico y mesodérmico. Es poco frecuente y se caracteriza por una tetrada: alteraciones ungueales, lúnula triangular, rótula hipoplásica o ausente, artrodisplasia de codo y cuernos ilíacos. Motiva esta presentación la observación de pacientes con afectación renal, haciendo una revisión bibliográfica en este sentido