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.
Female ; Heterozygote ; Humans ; Mutation ; Nail-Patella Syndrome/genetics* ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Whole Exome Sequencing

PURPOSE: To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of corneal opacities. Her IOP was 25 mmHg and 30 mmHg in the right and left eyes, respectively. After a diagnosis of congenital glaucoma, bilateral trabeculotomy was performed under general anesthesia. On the first postoperative day, the IOP was 12 mmHg in the right eye and 10 mmHg in the left eye, and remained stable thereafter. The infant was the second of fraternal twins (birth weight of 2.42 kg) and had no family history of any particular disease. During the regular checkup, she was referred to an orthopedic clinic for disorders of the elbow and knee. She presented with a dystrophic thumbnail, patella hypoplasia, elbow hypoplasia, and bilateral triangular protrusions of the lateral iliac crest (iliac horn). Based on the above findings, typical nail-patella syndrome was diagnosed and a mutation in the LMX1B gene was detected. CONCLUSIONS: If glaucoma patients have nail deformities or musculoskeletal abnormalities, nail-patella syndrome should be suspected and a multidisciplinary approach should be conducted.
Anesthesia, General ; Congenital Abnormalities ; Corneal Opacity ; Diagnosis ; Elbow ; Female ; Glaucoma ; Humans ; Infant ; Intraocular Pressure ; Knee ; Musculoskeletal Abnormalities ; Nail-Patella Syndrome ; Orthopedics ; Patella ; Trabeculectomy ; Twins, Dizygotic

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.
Adolescent ; Female ; Homeodomain Proteins/*genetics ; Humans ; *Mutation ; Nail-Patella Syndrome/*genetics/pathology ; Transcription Factors/*genetics

Nail-patella syndrome (NPS) is an autosomal dominant disease that typically involves the nails, knees, elbows and the presence of iliac horns. In addition, some patients develop glomerulopathy or adult-onset glaucoma. NPS is caused by lossof- function mutations in the LMX1B gene. In this study, phenotype-genotype correlation was analyzed in 9 unrelated Korean children with NPS and their affected family members. The probands included 5 boy and 4 girls who were confirmed to have NPS, as well as 6 of their affected parents. All of the patients (100%) had dysplastic nails, while 13 patients (86.7%) had patellar anomalies, 8 (53.3%) had iliac horns, 6 (40.0%) had elbow contracture, and 4 (26.7%) had nephropathy including one patient who developed end-stage renal disease at age 4.2. The genetic study revealed 8 different LMX1B mutations (5 missense mutations, 1 frame-shifting deletion and 2 abnormal splicing mutations), 6 of which were novel. Genotype-phenotype correlation was not identified, but inter- and intrafamilial phenotypic variability was observed. Overall, these findings are similar to the results of previously conducted studies, and the mechanism underlying the phenotypic variations and predisposing factors of the development and progression of nephropathy in NPS patients are still unknown.
Adolescent ; Child ; Child, Preschool ; DNA Primers/chemistry ; Female ; Genotype ; Homeodomain Proteins/*genetics ; Humans ; Infant ; Kidney Failure, Chronic/genetics ; Korea ; Male ; Mutation ; Nail-Patella Syndrome/diagnosis/*genetics/physiopathology ; Phenotype ; Transcription Factors/*genetics

PURPOSE: Despite a high frequency of acquired nail disease, congenital absence of the nail, also called as anonychia, is a rare anomaly. It may be seen as an isolated of phalangeal bone(ectrodactyly), nail-patella syndrome, birth trauma, impaired peripheral circulation, alopecia areata, and pemphigus, idiopathic atrophy of the nail, bullous drug eruptions, periodic shedding, lichen planus, Stenvens-Johnson syndrome and so forth. METHODS: We have experienced a rare case of 40-day-old neonate, suffering from intrauterine growth retardation, but without familial history, chromosomal anomalies or any other diseases. RESULTS: There was no nail on left 5th finger and distal phalangeal bone of same finger. So, We diagnosed as Congenital Anonychia with ectrodactyly of 5th Finger. CONCLUSION: We report this case as congenital anonychia of 5th finger which have developed from underlying distal phalangeal ectrodactyly. We also review other reported cased in the literatures.
Alopecia Areata ; Atrophy ; Drug Eruptions ; Fetal Growth Retardation ; Fingers* ; Humans ; Infant, Newborn ; Lichen Planus ; Nail Diseases ; Nail-Patella Syndrome ; Parturition ; Pemphigus

Nail-patella syndrome (NPS) is a rare autosomal dominant disorder characterized by fingernail dysplasia, hypoplastic or absent patellae, dislocation of the radial head, and bony protuberances of the iliae, also known as iliac horns. It results from a heterogenous loss of function or mutations in the transcription factor (LMX1b). Herein, we report a rare case of nail-patella syndrome in an 18 month-old female.
Animals ; Dislocations ; Female ; Head ; Horns ; Humans ; Infant ; Nail-Patella Syndrome* ; Nails ; Patella ; Transcription Factors

Nail-patella syndrome is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns, and dysplasia or dislocation of the elbow. We experienced a case of nail-patella syndrome. NPS is a relatively uncommon disease; however, an understanding of the typical radiologic findings is useful in establishing the diagnosis and guiding the treatment.
Animals ; Diagnosis ; Dislocations ; Elbow ; Horns ; Nail-Patella Syndrome* ; Patella

Nail-patella syndrome is a relatively rare autosomal dominant disorder characterized by dysplastic nail, hypoplastic or absent patella, and dislocation of radial head and iliac horns. In addition, renal abnormalities have been reported. The usual clinical signs of the renal involvement are asymptomatic proteinuria, microscopic hematuria, and in some cases progression to end stage renal disease. We present the case of adult with nail-patella syndrome, who developed proteinuria. Electron microscopy revealed irregular thickening of the glomerular basement membrane with areas of rarefaction, giving rise to a pathognomonic "moth-eaten" appearance.
Adult ; Animals ; Dislocations ; Glomerular Basement Membrane ; Head ; Hematuria ; Horns ; Humans ; Kidney Failure, Chronic ; Microscopy, Electron ; Nail-Patella Syndrome* ; Patella ; Proteinuria

No abstract available.
Nail-Patella Syndrome*

No abstract available.
Nail-Patella Syndrome*