The Experts below are selected from a list of 222 Experts worldwide ranked by ideXlab platform

Philippe Vanhille - One of the best experts on this subject based on the ideXlab platform.

  • myh9 related Disorders display heterogeneous kidney involvement and outcome
    Ndt Plus, 2019
    Co-Authors: N Tabibzadeh, D Fleury, D Labatut, N Jourdechiche, Francois Vrtovsnik, Frank Bridoux, Nicole Schlegel, Arnaud Lionet, Philippe Vanhille
    Abstract:

    Background MYH9-related diseases (MYH9-RD) are Autosomal Dominant Disorders caused by mutations of the MYH9 gene encoding the non-muscle myosin heavy chain IIA. They are characterized by congenital thrombocytopenia, giant platelets and leucocyte inclusions. Hearing impairment, pre-senile cataract and nephropathy can also occur. We aimed to evaluate renal involvement and outcome in MYH9-RD patients followed-up by nephrologists.

  • MYH9-related Disorders display heterogeneous kidney involvement and outcome
    Clinical Kidney Journal, 2019
    Co-Authors: N Tabibzadeh, D Fleury, D Labatut, Francois Vrtovsnik, Frank Bridoux, Nicole Schlegel, Arnaud Lionet, Noemie Jourde-chiche, Philippe Vanhille
    Abstract:

    Background MYH9-related diseases (MYH9-RD) are Autosomal Dominant Disorders caused by mutations of the MYH9 gene encoding the non-muscle myosin heavy chain IIA. They are characterized by congenital thrombocytopenia, giant platelets and leucocyte inclusions. Hearing impairment, pre-senile cataract and nephropathy can also occur. We aimed to evaluate renal involvement and outcome in MYH9-RD patients followed-up by nephrologists. Methods We conducted a retrospective multicentre observational study of 13 patients among 9 families with MYH9 mutation diagnosed by genetic testing and immunofluorescence assay referred to nephrologists. Results At initial referral, median age was 30 (range 14–76) years. Median estimated glomerular filtration rate was 66 mL/min/1.73 m2 (0–141) and two patients had already end-stage renal disease (ESRD). Renal presentation associated proteinuria (n = 12), haematuria (n = 6) and hypertension (n = 6). Three patients developed a rapid onset ESRD whereas five others had a relatively stable kidney function over a 3-year median follow-up (1–34). Extra-renal features varied widely, with hearing impairment in six patients, cataract in two and mild liver dysfunction in seven. Thrombocytopenia existed at referral in 11 patients. Time to diagnosis varied from 0 to 29 years (median 3 years). Initial diagnoses such as idiopathic thrombocytopenic purpura (n = 4) and focal segmental glomerulosclerosis (n = 1) led to corticosteroid administration (n = 4), intravenous immunoglobulins (n = 3), cyclophosphamide (n = 1) and splenectomy (n = 1). Conclusions Renal involvement and outcome in MYH9-RD are heterogeneous. The diagnosis is often delayed and misdiagnoses can lead to unnecessary treatments. MYH9-RD should be considered in any patient with glomerular involvement associated with a low or slightly decreased platelet count and/or hearing loss and liver dysfunction.

B C J Hamel - One of the best experts on this subject based on the ideXlab platform.

  • the small patella syndrome description of five cases from three families and examination of possible allelism with familial patella aplasia hypoplasia and nail patella syndrome
    Journal of Medical Genetics, 2001
    Co-Authors: Ernie M H F Bongers, H Van Bokhoven, M N Van Thienen, M A Kooyman, S E C Van Beersum, C Boetes, Nine V A M Knoers, B C J Hamel
    Abstract:

    Editor—The small patella syndrome (SPS, *MIM 14789), also known as ischiopatellar dysplasia, coxopodo patellar syndrome, or Scott-Taor syndrome, is a rare Autosomal Dominant disorder, characterised by a/hypoplasia of the patellae and various anomalies of the pelvis and feet. This syndrome was first described by Scott and Taor1 in 1979 in a large family with bilateral small or absent patellae accompanied by anomalies of the pelvic girdle and upper femora in most of the affected subjects. To our knowledge, 42 patients have been reported with this disorder,1-9comprising 35 cases from five families and seven sporadic cases. This bone dysplasia is characterised by patellar a/hypoplasia and pelvic anomalies, including bilateral absent or delayed ossification of the ischiopubic junction and infra-acetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus. Various other skeletal anomalies have been reported, such as elongated femoral necks, flattened and widened proximal femoral epiphyses, hypoplasia of the lesser trochanter, and tarsal anomalies. SPS should be clinically differentiated from Disorders with a/hypoplastic patellae, in particular the Autosomal Dominant Disorders isolated familial patella aplasia-hypoplasia (PTLAH) syndrome10 and the more severe nail-patella syndrome (NPS).11 The latter is caused by mutations of the LMX1B gene on chromosome 9q34. Recently, a locus for PTLAH has been identified on chromosome 17q21-22. As yet, it is unknown whether SPS and PTLAH are allelic Disorders. Here we report on five cases from three families with SPS, compare their clinical and radiological anomalies with those of previously reported cases, and propose minimal diagnostic criteria for SPS. Given the clinical overlap between SPS, PTLAH, and NPS, we have studied the possible involvement of candidate regions for these syndromes on chromosome 17q21-22 and 9q34, respectively, …

Maria Rita Passos-bueno - One of the best experts on this subject based on the ideXlab platform.

  • Parental origin of mutations in sporadic cases of Treacher Collins syndrome
    European Journal of Human Genetics, 2003
    Co-Authors: Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos-bueno
    Abstract:

    In some Autosomal Dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all Autosomal Dominant Disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.

Shinichi Kikuchi - One of the best experts on this subject based on the ideXlab platform.

  • Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia.
    Oncology reports, 2003
    Co-Authors: Hiroaki Nakayama, Yuichi Endo, Shigeo Aota, Masato Sato, Teizo Fujita, Shinichi Kikuchi
    Abstract:

    Mutations in the cartilage oligomeric matrix protein (COMP) gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which are Autosomal Dominant Disorders characterized by short-limb dwarfism. We report novel mutations of the COMP gene identified in two sporadic Japanese cases of PSACH. One had a novel single base substitution in exon 9, resulting in a missense mutation of Gly309Arg in the second type 3 repeat of COMP protein. The other patient had no mutations in any of the exonic sequences of the gene, but she did have a novel base substitution in intron 13. Although this mutation was not located in the conserved sequences for splicing donor and acceptor sites, it might disturb the precise splicing of the COMP transcripts, resulting in the production of abnormal protein with defective last type 3 repeat and/or C-terminal domain.

A Sweeney - One of the best experts on this subject based on the ideXlab platform.

  • branchio oto renal dysplasia and branchio oto dysplasia two distinct Autosomal Dominant Disorders
    Clinical Genetics, 2008
    Co-Authors: Michael Melnick, M E Hodes, Walter E Nance, H Yune, A Sweeney
    Abstract:

    Three families are presented, one with branchio-oto-renal dysplasia (BOR) and two with branchio-oto dysplasia (BO). The former syndrome is characterized by external ear malformations, cervical fistulae, mixed hearing loss and renal anomalies of varying severity. The latter syndrome differs in that there are no renal anomalies and that the sensorineural component of the hearing loss may be absent. The external ear malformations are quite variable in both syndromes. Evidence is presented which supports the idea that these two syndromes are not phenotypic variants of the same Autosomal Dominant mutation but distinct disease entities. The BOR syndrome appears to belong to a larger group of hereditary ear dysplasia-renal adysplasia syndromes that must be carefully ruled out in all patients with familial branchial arch malformations as well as in the parents and siblings of infants with "Potter facies" in the presence of auricular malformation and renal adysplasia.