The present paper is concerned with a report on a kin affected with Pelger-Huet's anomaly (PHA). 17 living heterozygous carriers of the anomaly are covered by the pedigree. Three further dead carriers of anomaly could be detected by genealogical studies. Polydactylia was found in three members of the kin, viz. in two sisters and a niece of second degree. Polydactylia could be found to have occurred at the same place in all these three persons concerned, with only one of them being a carrier of PHA: in all cases it was the doubling of the fifth toe of the right leg. This localisation of the same kind favours the assumption that this malformation is caused by genetics, however, without its having any genetical connection with PHA. The hypothesis was put forth that an enzyme defect is responsible for this hyposegmentation which simultaneously could have an impact on further elements of the mesenchymal tissue playing an important part in the histogenetic differentiation of organs.
- MeSH
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Pelger-Huet Anomaly etiology genetics MeSH
- Toes abnormalities MeSH
- Pedigree MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- English Abstract MeSH
- Journal Article MeSH
- Geographicals
- Czechoslovakia MeSH
- MeSH
- Biomechanical Phenomena MeSH
- Research Support as Topic MeSH
- Orthopedics methods MeSH
- Signs and Symptoms surgery rehabilitation MeSH
- Orthotic Devices MeSH
- Rehabilitation methods MeSH
- Limb Deformities, Congenital diagnosis classification therapy MeSH
- Bone Diseases, Developmental diagnosis classification therapy MeSH
- Publication type
- Review MeSH
OBJECTIVE: To determine the degree of similarity of biologically related individuals according to the occurrence of skeletal developmental anomalies (SDA), to see whether these anomalies reflect documented biological relationships. MATERIAL AND METHODS: The sample consists of the skeletal remains of seven members of the noble Swéerts-Sporck family from the 17th-20th centuries. Eighty-nine SDA were examined using morphological assessment, X-ray and CT. The degree of similarity was calculated using a similarity coefficient (Cvrček et al., 2018). RESULTS: There were three shared SDA in the sample (cranial shift at the C-T border, cervical ribs, hypoplasia of rib 12), and another fifteen individual SDA were reported. The degree of similarity between individuals supports their documented relationships. The greatest similarity was found in closely related individuals such as father/son or siblings, and the least between unrelated individuals. CONCLUSIONS: SDA can be used as a supportive tool for detecting family relationships. The results correspond to the conclusions of earlier analyses of non-metric traits and frontal sinuses in the same sample: the smaller the biological distance between individuals, the greater the degree of their similarity. SIGNIFICANCE: Using unique human skeletal collections, this communication contributes to the expansion of knowledge about the familial occurrence of SDA. LIMITATIONS: The small number of individuals limits the use of statistical approaches. SUGGESTIONS FOR FURTHER RESEARCH: The results call for research on this topic using a larger sample with known genealogical data and the same approaches, to confirm our conclusions.
- MeSH
- Skull * MeSH
- Humans MeSH
- Frontal Sinus * MeSH
- Body Remains MeSH
- Ribs MeSH
- Knowledge MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Skeletal developmental anomalies (SDA) are a subject of constant interest across scientific disciplines, but still mostly as isolates and curiosities. The aim of this study was to find out to what extent the occurrence of SDA reflects documented biological relationships. The skeletal remains of 34 individuals with known genealogical data were available, members of one family over four generations (19th to 20th centuries, Bohemia, Czech Republic), including some inbred individuals. The occurrence of 89 SDA was assessed on the basis of scopic morphological evaluation and X-ray and CT examinations. The degree of similarity between individuals was calculated using a "similarity coefficient" (SC). A linear model was used to test the relationship between positive values of the SC and the relatedness of biologically related individuals. Simultaneously, based on population frequencies of the evaluated anomalies, those that could be considered familial were recorded. A statistically significant relationship between morphological similarity and the biological distance between individuals was found. The greatest similarity was found among close relatives such as parents and children, siblings, or grandparents and grandchildren. The effect of increased consanguinity on the occurrence of anomalies was not confirmed, however. Seventeen SDA shared by closely related individuals were found in the sample, supporting the documented family relationships among them. Eleven of these were selected as possibly familial, but only five were statistically significant: an elongated styloid process, a cervical block vertebrae (arch, facet joints), hamate hamulus aplasia, anteater nose sign, and incomplete fusion of the S1 spinous process. There were also 28 cases of individual occurrences of 17 different SDA, without connection to the documented relationships between individuals.
- MeSH
- Child MeSH
- Cervical Vertebrae * MeSH
- Neck MeSH
- Humans MeSH
- Temporal Bone MeSH
- Body Remains * MeSH
- Check Tag
- Child MeSH
- Humans MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
Popsána další rodina s Pelgerovou-Huetovou dědičnou anomalií leukocytů a tím poukázáno na častý výskyt této odchylky v českých zemích
- MeSH
- Pelger-Huet Anomaly epidemiology MeSH
- Publication type
- Case Reports MeSH
Fukutinopatie patří do skupiny α-dystroglykanopatií, autosomálně recesivně dědičných myopatií kosterního svalu s variabilním postižením srdce. Onemocnění bylo objeveno v Japonsku, kde se endemicky vyskytuje ve formě Fukuyamovy vrozené svalové dystrofie. Vzácně se však vyskytuje také v jiných zemích s odlišnou genetickou architekturou. Prezentujeme případ fukutinopatie diagnostikovaný u mladého muže českého původu s dilatační kardiomyopatií, elevací kreatinkinázy a frustními známkami myopatie kosterního svalu při neurologickém vyšetření. Celoexomová sekvenace identifikovala na jedné alele patogenní variantu fukutinu (FKTN) His172Leu, která při rozsáhlé deleci exonů 1-9 na druhé alele FKTN působila jako homozygotní varianta. Kardiální i neurologický stav pacienta zůstává po čtyřech letech sledování stabilní. Recentně byla u pacienta na magnetické rezonanci (MR) mozku náhodně zjištěna rozsáhlá epidermoidní cysta čtvrté komory s útlakem mozkového kmene vyžadující neurochirurgický zákrok, která by mohla zapadat do vývojových anomálií mozku pacientů s fukutinopatiemi. V kontextu tohoto vzácného onemocnění rozebíráme diagnostiku a léčbu kardiomyopatií doprovázených onemocněním kosterního svalu.
Fukutinopathy belongs to α-dystroglykanopathies, autosomal recessive inherited skeletal muscle myopathies with a variable cardiac involvement. The disease was discovered in Japan with endemic occurrence as Fukuyama congenital skeletal dystrophy. However, it can be rarely diagnosed also in other countries with a different genetic architecture. We present a case of fukutinopathy in a young male of Czech origin with dilated cardiomyopathy and elevation of creatine phosphokinase. Neurologic assessment revealed just borderline signs of skeletal muscle myopathy. Whole-exome sequencing revealed in one allele a pathogenic missense variant of fukutin (FKTN) His172Leu, which was accompanied by a large deletion of exons 1-9 in the second allele of FKTN acting as a homozygous variant. Cardiac and neurologic status of the patient remained stable in the last four years. Recently, the patient has been diagnosed with a large epidermoid cyst of the fourth brain chamber causing a brainstem compression, which required a neurosurgical intervention. The finding could be related to congenital cerebral abnormalities seen in patients with fukutinopathies. In the context of this rare disease, we discuss diagnostics and management of cardiomyopathies associated with a skeletal muscle myopathy.
- MeSH
- Cardiomyopathy, Dilated ethnology complications MeSH
- Comorbidity MeSH
- Humans MeSH
- Young Adult MeSH
- Musculoskeletal Diseases prevention & control MeSH
- Muscular Dystrophies etiology complications MeSH
- Walker-Warburg Syndrome * complications MeSH
- Rare Diseases MeSH
- Check Tag
- Humans MeSH
- Young Adult MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
