Prolidase deficiency: A multisystemic hereditary disorder

Bissonnette, Robert; Friedmann, Dominique; Giroux, Jean-Mario; Dolenga, Michael; Hechtman, Peter; Kaloustian, Vazken M. Der; Dubuc, Richard

doi:10.1016/0190-9622(93)70245-o

Cited by 61 publications

(53 citation statements)

References 24 publications

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“…Of particular interest is the CF syndrome [Mandel et al, 2000;Luder et al, 2007] and the two patients with SLE. Four cases of SLE phenotype associated with PD have previously been described [Bissonnette et al, 1993;Shrinath et al, 1997;Di Rocco et al, 2007]. SLE and PD are multi-system disorders associated with immune system dysfunction.…”

Section: Clinical Phenotypementioning

confidence: 95%

“…Frank vasculitis and hepatitis-like symptoms present in some patients. Typical features of systemic lupus erythematosus (SLE) and hyper-IgE syndrome have also been documented [Bissonnette et al, 1993;Shrinath et al, 1997;Hershkovitz et al, 2006;Di Rocco et al, 2007]. PD is generally diagnosed in early childhood, with some patients apparently remaining asymptomatic [Royce and Steinmann, 2002].…”

Section: Introductionmentioning

confidence: 99%

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A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Falik‐Zaccai

Khayat

Luder

et al. 2009

American J of Med Genetics Pt B

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Prolidase deficiency (PD) is a rare, pan-ethnic, autosomal recessive disease with a broad phenotypic spectrum. Seventeen causative mutations in the PEPD gene have been reported worldwide. The purpose of this study is to characterize, clinically and molecularly, 20 prolidase deficient patients of Arab Moslem and Druze origin from 10 kindreds residing in northern Israel. All PD patients manifested developmental delay and facial dysmorphism. Typical PD dermatological symptoms, splenomegaly, and recurrent respiratory infections presented in varying degrees. Two patients had systemic lupus erythematosus (SLE), and one a novel cystic fibrosis phenotype. Direct DNA sequencing revealed two novel missense mutations, A212P and L368R. In addition, a previously reported S202F mutation was detected in 17 patients from seven Druze and three Arab Moslem kindreds. Patients homozygous for the S202F mutation manifest considerable interfamilial and intrafamilial phenotypic variability. The high prevalence of this mutation among Arab Moslems and Druze residing in northern Israel, and the presence of an identical haplotype along 500,000 bp in patients and their parents, suggests a founder event tracing back to before the breakaway of the Druze from mainstream Moslem society.

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Section: Clinical Phenotypementioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Falik‐Zaccai

Khayat

Luder

et al. 2009

American J of Med Genetics Pt B

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“…For this reason, the carbohydrate-deficient transferrin studies were tested and found negative, ruling out congenital disorders of glycosylation. Notably, SLE has been linked to PD [Bissonnette et al, 1993;Shrinath et al, 1997;Di Rocco et al, 2007] and is associated with multiple mutations [Lupi et al, 2006[Lupi et al, , 2008Falik-Zaccai et al, 2010;Klar et al, 2010;Butbul Aviel et al, 2012]. The mechanistic relationship between these entities is not clear, but a loss of immune tolerance to lupus-associated autoantigens in PD has been hypothesized, leading to positive antinuclear antibodies and other autoantibody testing even in patients without clinical SLE [Kurien et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion

et al. 2016

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Prolidase deficiency (PD) is a rare genetic disorder caused by mutations in the peptidase D (PEPD) gene, affecting collagen degradation. Features include lower extremity ulcers, facial dysmorphism, frequent respiratory infections, and intellectual disability, though there is significant intra- and interfamilial variability. Twenty-eight mutations have been previously reported, all either small deletions/duplications or point mutations discovered by enzyme or DNA assays. PD has been reported in patients of various ethnic backgrounds, but never in the Mexican-American population. We describe the first Mexican-American patient with PD, who presented with typical facial features, developmental delay, microcephaly, and xerosis. Chromosome microarray analysis (CMA) revealed a homozygous deletion in the region of 19q13.11, estimated to be between 124.79 and 195.72 kb in size, representing the largest PEPD gene deletion reported to date and the first discovered by CMA.

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“…Skin changes occur in about 85% of cases in the form of skin fragility; ulceration and scarring, mainly of the lower extremities. There may be photosensitivity, telangiectasia, poliosis, purpuric lesions, premature greying, and lymphoedema [79]. Antinuclear antibodies (ANA) and anti-ds-DNA may be positive [80].…”

Section: Prolidase Deficiencymentioning

confidence: 99%

Premature Greying of Hair (Premature Canities): A Concern for Parent and Child

Nigam¹,

Nigam²

2017

Pigmentary Disorders

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Hair goes grey with chronological aging. Premature hair greying may have significant adverse effects on the appearance, self-esteem, and socio-cultural acceptance of the affected individual. The exact aetiopathogenetic mechanism causing premature greying is still not clear and much speculative. Premature canities may appear alone as an autosomal dominant trait or it may occur in association with certain other disorders. The genes Pax3 and MITE play an important role in melanocyte stem cell maintenance and differentiation. Defective melanosomal transfer to the cortical keratinocytes or melanin incontinence due to melanocyte degeneration is also believed to contribute to greying. Despite the extensive molecular research being carried out to understand the pathogenesis of canities, treatment options still remain far from satisfactory and no effective therapy is available. Premature greying is a feature in a number of well recognised syndromes. A number of other conditions have also been observed to be associated with premature greying of hair.

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Prolidase deficiency: A multisystemic hereditary disorder

Cited by 61 publications

References 24 publications

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability

Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion

Premature Greying of Hair (Premature Canities): A Concern for Parent and Child

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