Key Clinical Message
From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious ...cardiomyopathy. First trimester intake of doxycycline could be a cofactor.
Prenatal diagnosis of a 16p12.2 microdeletion, inherited from normal father, is reported in a dysmorphic 20 weeks fetus. Histopathological examination of the myocardium (not present in the 65 cases in literature) showed bifid apex of the heart and spongiotic structure. Correlation between the deleted genes and cardiomyopathy is discussed.
(A) Disordered arrangement of myocardial cells with fissures between myocardial fiber (E–E 20×). (B) Hypetrophic appearance of fissured left ventricular myocardium (E–E 40×). (C) Myocardial fibers with clear changes in the volume and shape of the myocardial fibers, showing marked disarrangement in their histological organization (E–E 200×).
Environmental contaminants, heavy metals and pesticides, could be a cause for oligoasthenospermia. Analyses of the five heavy metals (Pb, Cd, Hg, Ni, and Cu) have showed values that are above the ...normal range in oligospermic patients in a selected group. We used blood values to ascertain reference values for heavy metal concentrations, as there is a lack of baseline values for seminal plasma in previously published papers. Three recent research projects in the same area of southern Italy ("Land of fires" in Campania and Sicily) have shown correlation between environmental pollution from heavy metals and oligospermia. At the Zygote Center in Salerno (Campania, Italy), a group comprising 200 couples with fertility problems was monitored over a 2-year period. A group of eight oligospermic men was selected according to the following criteria: (1) absence of genetic factors; (2) absence of cryptorchidism, epididymitis, and varicocele. The patient sample group is small, because selection criteria are very strict. Tests were conducted on a group of 20 normospermic patients, as a control sample. A specific amount of seminal fluid was first centrifuged and then analyzed using atomic absorption spectrophotometry, which is used to determine the presence of heavy metals. Subsequently, the High Performance Liquid Chromatography-Mass Spectrometry technique was applied to detect a panel of 500 pesticides. Traces of heavy metals in seminal plasma have been found in 4 out of 8 in the sample group and in 2 of the control patients. The difference was statistically significant. No pesticides were found either in control or in oligospermic patients. Keywords: Pollution and male infertility; Sperm quality and pollution; Heavy metals in seminal fluid; Pesticides in seminal fluid; Pb, Cd, Ni, Cu in seminal fluid; "Land of fires"
Purpose: To describe the clinical features of a large kindred with familial infantile myoclonic epilepsy (FIME) with autosomal recessive inheritance, and to discuss the nosology of the early ...infantile myoclonic epilepsies (IMEs).
Methods: The family descends from the intermarriage of two couples of siblings. In a previous study, we mapped the genetic locus to chromosome 16p13.We analyzed results of family records and personal history, psychomotor development, neurologic examination, epilepsy features, and EEG recordings for each subject.
Results: FIME has a strong penetrance (eight affected of 14 subjects) and a homogeneous clinical picture. Like the benign form of infantile myoclonic epilepsy (BIME), FIME is a true idiopathic IME with unremarkable history, no neurologic or mental impairment, good response to treatment, and normal interictal EEG pattern. Conversely, onset with generalized epileptic seizures without fever (four patients) or with fever (one patient), frequency and duration of the myoclonic seizures, occurrence of generalized tonic–clonic seizures (GTCSs) in all patients and persistence of seizures into adulthood are characteristics of the severe infantile myoclonic epilepsy (SIME).
Conclusions: Clinical overlap probably exists among the myoclonic epilepsies of infancy. FIME differs from other forms of IME in its phenotypic features. The peculiar mode of inheritance is explained by the genetic background of the family. Genetic studies suggest linkage to chromosome 16 in familial cases of true IME.
The present case report describes an Italian family with three affected probands, who exhibited serious mental disability, which has not been associated with other anomalies, except with slight ...facial dysmorphism. Molecular multigenic analysis for intellectual disability identified a previously unreported variant, p.Ile1765Met (c.5295C>G) in the SNF domain of the ATRX protein (in exon 24). The identified mutation was found in a hemizygous state in all three affected probands and in a heterozygous state in the asymptomatic mother and the female sibling. With respect to the phenotypic similarities found in the patients with those described in previous studies, the consistency in the mode of inheritance and segregation of the mutation, the variant reported in the present case report may be considered as 'likely pathogenic'. To investigate the hypothesis that the preferential transmission of the ATRX mutation observed in this family reflected a general trend, a meta‑analysis into the segregation of ATRX mutations from published pedigrees, following allelic transmission from mothers who are heterozygous carriers to their offspring, was performed. A preferential transmission of the mutant allele to male offspring (58% of males inherited the mutant allele) was found; however, the bias was not statistically significant (P=0.29; χ2 test).
Key Clinical MessageFrom a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious ...cardiomyopathy. First trimester intake of doxycycline could be a cofactor. AbstractPrenatal diagnosis of a 16p12.2 microdeletion, inherited from normal father, is reported in a dysmorphic 20 weeks fetus. Histopathological examination of the myocardium (not present in the 65 cases in literature) showed bifid apex of the heart and spongiotic structure. Correlation between the deleted genes and cardiomyopathy is discussed.
Myoclonic epilepsies with onset in infancy and childhood are clinically and etiologically heterogeneous. Although genetic factors are thought to play an important role, to date very little is known ...about the etiology of these disorders. We ascertained a large Italian pedigree segregating a recessive idiopathic myoclonic epilepsy that starts in early infancy as myoclonic seizures, febrile convulsions, and tonic-clonic seizures. We typed 304 microsatellite markers spanning the 22 autosomes and mapped the locus on chromosome 16p13 by linkage analysis. A maximum LOD score of 4.48 was obtained for marker D16S3027 at recombination fraction 0. Haplotype analysis placed the critical region within a 3.4-cM interval between D16S3024 and D16S423. The present report constitutes the first example of an idiopathic epilepsy that is inherited as an autosomal recessive trait.
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Provider: - Institution: - Data provided by Europeana Collections- All metadata published by Europeana are available free of restriction under the Creative Commons CC0 1.0 Universal Public Domain ...Dedication. However, Europeana requests that you actively acknowledge and give attribution to all metadata sources including Europeana
Provider: - Institution: - Data provided by Europeana Collections- All metadata published by Europeana are available free of restriction under the Creative Commons CC0 1.0 Universal Public Domain ...Dedication. However, Europeana requests that you actively acknowledge and give attribution to all metadata sources including Europeana
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