Andreas Janecke
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View article: Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings
Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two Siblings Open
Biallelic pathogenic variants in DHCR7 result in decreased activity of 7-dehydrocholesterol (7-DHC) reductase, which converts 7-DHC to cholesterol, and causes Smith–Lemli–Opitz syndrome (SLOS). Elevated serum 7-DHC levels are indicative of…
View article: Congenital enteropathy caused by ezrin deficiency
Congenital enteropathy caused by ezrin deficiency Open
Ezrin, encoded by EZR , is a central module of epithelial polarity and links membrane proteins to the actin cytoskeleton directly or indirectly through scaffold proteins in the epithelium. Ezrin knockout mice fail to thrive and do not surv…
View article: Altered chaperone–nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome
Altered chaperone–nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome Open
The osteo-oto-hepato-enteric (O2HE) syndrome is a severe autosomal recessive disease ascribed to loss-of-function mutations in the Unc-45 myosin chaperone A (UNC45A) gene. The clinical spectrum includes bone fragility, hearing loss, choles…
View article: Pathogenic Deep Intronic <scp> <i>PCSK1</i> </scp> Variant Causes Proprotein Convertase 1/3 Deficiency in a Family
Pathogenic Deep Intronic <span> <i>PCSK1</i> </span> Variant Causes Proprotein Convertase 1/3 Deficiency in a Family Open
Proprotein convertase 1/3 (PC1/3), encoded by PCSK1 , is expressed in neuronal and endocrine cell types, where it activates a number of protein precursors that play roles in energy homeostasis. Biallelic PCSK1 loss‐of‐function mutations ca…
View article: Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure Open
Background: Pediatric acute liver failure (PALF) is a rare and life-threatening condition. In up to 50% of PALF cases, the underlying etiology remains unknown during routine clinical testing. This lack of knowledge complicates clinical man…
View article: The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer
The Recurrent E-Cadherin (CDH1) Mutation c.760G>A Causes Orofacial Clefts but Does Not Predispose to Hereditary Cancer Open
Objective: Congenital, non-syndromic orofacial clefts (CL/P) are infrequently monogenic in etiology. However, heterozygous pathogenic CDH1 germline variants were reported in a few non-syndromic CL/P families, as well as in one syndromic fo…
View article: <scp> <i>PERCC1</i> </scp> ‐Related Congenital Enteropathy
<span> <i>PERCC1</i> </span> ‐Related Congenital Enteropathy Open
A total of 14 patients are known with the nonsyndromic enteropathy caused by biallelic deletions (∆L and ∆S) or truncating mutations affecting PERCC1 or its adjacent regulatory region. PERCC1 is so far in gnomAD only annotated in the GRCh3…
View article: <scp> <i>Kinesin family member 12</i> </scp> ‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity
<span> <i>Kinesin family member 12</i> </span> ‐related hepatopathy: A generally indolent disorder with elevated gamma‐glutamyl‐transferase activity Open
Exome sequencing (ES) has identified biallelic kinesin family member 12 ( KIF12 ) mutations as underlying neonatal cholestatic liver disease. We collected information on onset and progression of this entity. Among consecutively referred pe…
View article: SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes
SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes Open
Disclosure: C. Smith: None. A. Jackson: None. A. Al-Salihi: None. A. Janecke: None. E. Steichen: None. D. Darby: None. L. Griffin: None. S. Banka: None. S. Elsayed: None. L. Chan: None. L. Metherell: None. Adrenal insufficiency (AI) is lif…
View article: SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption
SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption Open
Congenital glucose-galactose malabsorption is a rare autosomal recessive disorder caused by mutations in SLC5A1 encoding the apical sodium/glucose cotransporter SGLT1. We present clinical and molecular data from eleven affected individuals…
View article: Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant
Leri–Weill Dyschondrosteosis Caused by a Leaky Homozygous SHOX Splice-Site Variant Open
SHOX deficiency is a common genetic cause of short stature of variable degree. SHOX haploinsufficiency causes Leri–Weill dyschondrosteosis (LWD) as well as nonspecific short stature. SHOX haploinsufficiency is known to result from heterozy…
View article: CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology
CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology Open
Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the…
View article: Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation
Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation Open
Background: Progressive Familial Intrahepatic cholestasis type I (PFIC1) is a rare congenital hepatopathy causing cholestasis with progressive liver disease. Surgical interruption of the enterohepatic circulation, e.g., surgical biliary di…
View article: Further delineation of <scp><i>SLC9A3</i></scp>‐related congenital sodium diarrhea
Further delineation of <span><i>SLC9A3</i></span>‐related congenital sodium diarrhea Open
Background Congenital sodium diarrhea (CSD) is a rare enteropathy displaying both broad variability in clinical severity and genetic locus and allelic heterogeneity. Eleven CSD patients were reported so far with SLC9A3 variants that impair…
View article: UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking
UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking Open
Variants in the UNC45A cochaperone have been recently associated with a syndrome combining diarrhea, cholestasis, deafness, and bone fragility. Yet the mechanism underlying intestinal failure in UNC45A deficiency remains unclear. Here, bia…
View article: Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia
Comprehensive variant spectrum of the <i>CNGA3</i> gene in patients affected by achromatopsia Open
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PD…
View article: Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease
Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease Open
Wilson disease (WD) is caused by biallelic pathogenic variants in adenosine triphosphatase copper‐transporting beta (ATP7B); however, genetic testing identifies only one or no pathogenic ATP7B variant in a number of patients with WD. Synon…
View article: Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>) Open
Background Musculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS- CHST14 ) or DSE (mcEDS- DSE ). Although 48 patients in 33 families with mcEDS- CHST14 have been reported, the spectrum…
View article: A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations
A Potential Treatment of Congenital Sodium Diarrhea in Patients With Activating GUCY2C Mutations Open
INTRODUCTION: Gain-of-function mutations in guanylyl cyclase C (GCC) result in persistent diarrhea with perinatal onset. We investigated a specific GCC inhibitor, SSP2518, for its potential to treat this disorder. METHODS: We investigated …
View article: Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family Open
Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of a…
View article: Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia
Erratum to: Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Open
The publisher apologizes for publishing an incorrect version of the article. This has been corrected.