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Article
A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
DNM1 developmental and epileptic encephalopathy (DEE) is characterized by severe to profound intellectual disability, hypotonia, movement disorder, and refractory epilepsy, typically presenting with infantile spa...
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Article
INPP4A-related genetic and phenotypic spectrum and functional relevance of subcellular targeting of INPP4A isoforms
Type I inositol polyphosphate-4-phosphatase (INPP4A) belongs to the group of phosphoinositide phosphatases controlling proliferation, apoptosis, and endosome function by hydrolyzing phosphatidylinositol 3,4-bi...
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Article
Open AccessClinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing
Marfan syndrome and related disorders are a group of heritable connective tissue disorders and share many clinical features that involve cardiovascular, skeletal, craniofacial, ocular, and cutaneous abnormalit...
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Article
Open Accessde novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation
In eukaryotes, the elongation phase of transcription by RNA polymerase II (RNAP II) is regulated by the transcription elongation factor b (P-TEFb), composed of Cyclin-T1 and cyclin-dependent kinase 9. The rele...
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Article
Biallelic variants in SMAD6 are associated with a complex cardiovascular phenotype
Rare heterozygous variants in SMAD6 have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on one hand and non-syndromic midline craniosynostosis on...
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Article
Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum
To describe the varying phenotypic spectrum of Focal Dermal Hypoplasia (FDH) and to emphasize the need for identifying the condition in mildly affected females which is crucial for offering a prenatal diagnosi...
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Article
Open AccessPhenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients
Larsen syndrome is an autosomal dominant skeletal dysplasia characterized by large joint dislocations and craniofacial dysmorphism. It is caused by missense or small in-frame deletions in the FLNB gene. To furthe...
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Article
RASopathien
Die RASopathien umfassen das Noonan-Syndrom, seltenere verwandte Syndrome (CFC-, Costello und LEOPARD-Syndrom) sowie die Neurofibromatose Typ 1 und ähnliche Erkrankungen (Legius-, NF1-Noonan-Syndrom). Die...
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Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
Kerstin Kutsche, Marco Tartaglia and colleagues show that missense mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome, a disorder characterized by facial dysmorphism, intellectual disability, digit ...
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Article
Open AccessPhenotypic and molecular insights into CASK-related disorders in males
Heterozygous loss-of-function mutations in the X-linked CASK gene cause progressive microcephaly with pontine and cerebellar hypoplasia (MICPCH) and severe intellectual disability (ID) in females. Different CASK ...
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Article
Open AccessClinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome
Segmental Xp22.2 monosomy or a heterozygous HCCS mutation is associated with the microphthalmia with linear skin defects (MLS) or MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome, an X-linked dis...
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Article
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Kerstin Kutsche and colleagues report that mutations in GRIN2A and GRIN2B cause variable neurodevelopmental phenotypes including mental retardation and epilepsy. GRIN2A and GRIN2B encode regulatory subunits of N-...
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Article
A restricted spectrum of NRAS mutations causes Noonan syndrome
Martin Zenker, Marco Tartaglia, Reza Ahmadian and colleagues report the identification of a restricted spectrum of NRAS mutations in individuals with Noonan syndrome. Functional testing revealed that the mutation...
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Article
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair
Marco Tartaglia and colleagues report the identification of mutations of SHOC2 in individuals with Noonan-like syndrome with loose anagen hair. The mutations cause aberrantly acquired N-myristoylation of SHOC2 re...
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Article
Correction: Corrigendum: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Nat. Genet. 40, 1065–1067 (2008); published online 10 August 2008; corrected after print 29 October 2008 In the version of this article initially published, there was an error in the text on page 1066. The pro...
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Article
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Kerstin Kutsche and colleagues report that mutations in CASK cause an X-linked brain malformation marked by microcephaly and hypoplasia of the brainstem and cerebellum. CASK encodes a scaffolding protein that is ...
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Article
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to early onset retinitis pigmentosa1 (RP). ...
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Article
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation
X-linked forms of mental retardation (XLMR) include a variety of different disorders and may account for up to 25% of all inherited cases of mental retardation1. So far, seven X-chromosomal genes mutated in nonsp...
