Unraveling the genetics of Joubert and Meckel-Gruber syndromes
نویسندگان
چکیده
منابع مشابه
Unraveling the genetics of Joubert and Meckel-Gruber syndromes.
Joubert (JBTS) and Meckel-Gruber (MKS) syndromes are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review we provide an overview of their clinical diagnosis, management and molecular genetics. Both have variable phenotypes, extreme genetic heterogeneity, and display allelism both with each othe...
متن کاملClinical and genetic heterogeneity of the Joubert and Meckel syndromes
Introduction Identification of genes causing inherited cystic kidney diseases has triggered a major interest for the concept of ‘ciliopathies’. Indeed, almost all of the proteins involved in human renal cystic diseases are expressed in the primary cilium complex located in renal epithelial cells. Primary cilia are cellular extensions containing a microtubulebased axoneme covered by a specialize...
متن کاملMeckel Gruber syndrome (dysencephalia splanchnocystica).
Meckel-Gruber syndrome is a rare lethal autosomal recessive condition which was first described by Johann Friedrich Meckel in 1822 and GB Gruber in 1934. More than 200 cases have been reported worldwide with an incidence ranging from 1:13,250 to 1:140,000 live births. A 21-year-old female with G3 A2 L0, presented with twin pregnancy with history of previous two anencephalic pregnancies. The pre...
متن کاملA rare case of Meckel-Gruber syndrome.
Meckel-Gruber syndrome (MKS) is a lethal, autosomal recessive transmitted anomaly, characterized by the ultrasound triad: occipital meningoencephalocele, bilateral polycystic kidney, postaxial polydactyly. The incidence is between 1÷13 250 and 1÷140 000 live births, being a rare anomaly. We report a MKS case of feminine gender diagnosed on two ultrasound findings (bilateral polycystic kidney, o...
متن کاملMeckel-Gruber Syndrome with unilateral renal agenesis.
Meckel-Gruber Syndrome (MKS) is an autosomal recessive disorder, characterized by a combination of central nervous system malformation (occipital encephalocele), post-axial polydactyly, and enlarged polycystic kidney dysplasia. With a recurrence risk of 25% this lethal syndrome can be detected in early screening by ultrasound. However, to the authors' knowledge, association of MKS with unilater...
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ژورنال
عنوان ژورنال: Journal of Pediatric Genetics
سال: 2015
ISSN: 2146-4596,2146-460X
DOI: 10.3233/pge-14090