Nail–patella syndrome: report of 11 pediatric cases

Figueroa-Silva, Olalla; Vicente, A.; Agudo, Antonio; Baliu-Piqué, Carola; Gómez-Armayones, S.; Clemente, Emilio J. Inarejos; Navallas, María; Iglesia, Diego Gutiérrez de la; González-Enseñat, M.A.

doi:10.1111/jdv.13683

Cited by 16 publications

(2 citation statements)

References 15 publications

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“…The factors responsible for the phenotypic heterogeneity in NPS are basically unknown but it is possible that there are genetic variants that modify the interaction of LMX1B with other proteins giving rise to different clinical manifestations. Only a few cases of NPS have been reported in Spain (18)(19)(20) and, in general, pediatricians are not familiar with this disease.…”

Section: Mutation Analysismentioning

confidence: 99%

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome

Claverie-Martı́n

Trindade

Garcia-Gonzalez

et al. 2019

IRDR

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Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by developmental defects of dorsal limb structures, the kidney, and the eye, that manifest as dysplastic nails, hypoplastic or absent patella, elbow dysplasia, iliac horns, glomerulopathy, and adult-onset glaucoma, respectively. This disorder is inherited in an autosomal dominant mode and is caused by heterozygous loss-of-function mutations in the LMX1B gene, which encodes the LIM homeodomain transcription factor LMX1B. In this study, we report the clinical findings of a Spanish family, from the Canary Islands, with three affected members who displayed varying phenotypes. DNA sequence analysis identified a novel heterozygous missense mutation in LMX1B, c.305A>G, p.(Y102C), that segregated with the disease. The tyrosine residue affected by the mutation is highly conserved in evolution, and is located in the LIM-A domain, next to one of the cysteine residues involved in zinc binding, suggesting that p.(Y102C) affects LMX1B function by disturbing its interactions with other proteins. Our results expand the mutation spectrum of LMX1B and provide insight into the molecular mechanisms of NPS pathology.

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Section: Mutation Analysismentioning

confidence: 99%

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome

Claverie-Martı́n

Trindade

Garcia-Gonzalez

et al. 2019

IRDR

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“…A clinical tetrad of changes to the nails, knees, and elbows, as well as the presence of iliac horns, is typical [10]. …”

Section: Newborns: At Birthmentioning

confidence: 99%

Nail Disorders in Children

Starace

Alessandrini

Piraccini³

2018

Skin Appendage Disord

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Nail diseases in children do not account for a significant proportion of pediatric consultations, and most of the time the nails are not observed by the clinician, overlooking their importance. Specific examination of the nails is neglected, while localization to the nails could be an initial sign of a syndrome or a systemic disorder. Nail diseases in the pediatric population differ from those in adults in terms of diagnostic approach and management; some of them even are manifested mainly or exclusively in children. Pediatric patients with underlying systemic disorders are more likely to manifest acquired disorders of the nails. Although rare, nail diseases in children are a source of anxiety for the parents. Examination of the nails is an essential part of pediatric physical examination. A correct clinical history and careful examination help the clinician to distinguish the different conditions and to decide on the correct management of nail diseases in young patients. A classification of nail dystrophies according to age is somewhat arbitrary and a unique classification does not exist. Nail diseases in the pediatric population can be divided according to age groups where a predilection appears in most of the cases. Moreover, certain abnormalities may be lifelong once acquired, but their presentation may be modified by age, worsening or improving during life. This review describes many of the nail conditions that are seen in the pediatric population aging from newborn to toddler, starting with physiological aspects to better recognize the pathological conditions.

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Genetic Defects of Nails and Nail Growth

Gordon,

Paller

2024

Rook's Textbook of Dermatology

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Several genetic disorders manifest with nail dystrophy, allowing diagnosis and clues to seeking manifestations beyond the nail changes. Pachyonychia congenita results from abnormalities in one of five different keratin genes and can lead to exquisite pain on walking because of plantar foot involvement. Dyskeratosis congenita is a group of disorders with telomere shortening that often manifests with early oral and nail abnormalities, particularly dorsal pterygium. Dyskeratosis congenita is complex, with life‐threatening potential manifestations related to the development of squamous cell carcinoma, bone marrow failure and pulmonary fibrosis. Nail–patella syndrome has characteristic marked hypoplasia or anonychia of the nails, especially the thumbs, and should prompt investigation of the associated bone abnormalities. Hereditary anonychia can also be an isolated finding.

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Nail–patella syndrome: report of 11 pediatric cases

Abstract: Nail-patella syndrome is a rare disorder. The aim of the present study is to highlight the importance of nail examination in children with skeletal dysplasias, in order to diagnose the NPS.

Cited by 16 publications

References 15 publications

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome

Nail Disorders in Children

Genetic Defects of Nails and Nail Growth

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