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MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness
The term “MHY9-related disease,” which better interprets the recent knowledge in this field and identifies all patients at risk of developing renal, hearing, or visual defects, is proposed.
Position of nonmuscle myosin heavy chain IIA (NMMHC‐IIA) mutations predicts the natural history of MYH9‐related disease
Evaluating the clinical course of patients with mutations in the four most frequently affected residues of NMMHC‐IIA concluded that mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age.
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
It is demonstrated that the myosin-9 inclusions in neutrophils are a pathognomonic sign of the disease, demonstrating that the identification of the specific MYH9 mutation is still of importance for prognostic aspects of MyH9-RD.
New perspectives in the diagnosis and management of enteric neuropathies
- C. Knowles, G. Lindberg, E. Panza, R. Giorgio
- MedicineNature Reviews Gastroenterology &Hepatology
- 12 February 2013
Advances in the diagnosis and management of the main clinical entities—achalasia, gastroparesis, intestinal pseudo-obstruction and chronic constipation—that result from enteric neuropathies are discussed, including both primary and secondary forms.
A family with autosomal dominant leukodystrophy linked to 5q23.2–q23.3 without lamin B1 mutations
In a large Italian family, a variant form of ADLD is identified characterized clinically by absence of the autonomic dysfunction at onset described in ADLD and, on MRI, by milder cerebellar involvement with sparing of hemispheric white matter.
Genetics of human enteric neuropathies
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23–q24
- Alessia Deglincerti, R. Giorgio, V. Stanghellini
- Medicine, BiologyEuropean Journal of Human Genetics
- 9 May 2007
The data strongly support the presence of a new genetic locus associated with CIIP, long-segment Barrett esophagus, and cardiac involvement on chromosome 8.
MYH9 related disease: four novel mutations of the tail domain of myosin‐9 correlating with a mild clinical phenotype
Four families are reported, each with a novel mutation: two missense mutations, in exons 31 and 32, and two out of frame deletions in exon 40, confirming that alterations of the tail domain cause a mild form of MYH9‐RD with no clinically relevant defects.
Genetic Predisposition to Familial Neuroblastoma: Identification of Two Novel Genomic Regions at 2p and 12p
The results suggest an oligogenic inheritance in NB involving more loci in genetic determination of the disease, thus confirming the remarkable genetic heterogeneity of NB.
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
Results suggest that the pathway involving the enzyme encoded by ALDH18A1 (Δ1-pyrroline-5-carboxylate synthase, P5CS) is deficient, and it is shown that the enzymatic activity linked to one of the dominant mutations is deficient.