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Arthrogryposis, distal, type 7 (DA7)

Summary Distal arthrogryposis type 7 (DA7), often referred to as trismus-pseudocamptodactyly syndrome or Hecht syndrome, is caused by mutation in the MYH8 gene. Heredity is autosomal dominant. Large multigenerational families with several affected members have been reported. Detailed clinical description Expressivity is highly variable, although penetrance tends to be complete. Inability to open the mouth completely (trismus), short finger-flexor tendons such that dorsiflexion of the

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Arthrogryposis, distal, type 6 (DA6)

Summary Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness. Detailed clinical description Distal arthrogryposis type 6 (DA6) is distinguished by the additional feature of sensorineural deafness. The syndrome has been originally described as a arthrogryposis-like hand anomaly with sensorineural deafness. Both features of the syndrome can vary widely in severity. Some patients may have only the hand anomaly. Male-to-male

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Arthrogryposis, distal, type 5 (DA5)

 Summary Distal arthrogryposis type 5 (DA5, also known as oculomelic amyoplasia) is caused by heterozygous mutation in the PIEZO2 gene, of which mutations also cause the overlapping syndromes DA3 and Marden-Walker syndrome. Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia*, and/or strabismus, in addition to contractures of the skeletal muscles. Retinopathy can also

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Arthrogryposis, distal, type 4 (DA4)

Summary Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis. The transmission is autosomal dominant and the condition has been observed across multiple generations in families. Mental retardation and syndactyly can be seen in some cases. Detailed clinical description In DA4 the scoliosis can be mild to severe, with the possibility of fusion of cervical vertebrae and osteophyte formation. Typical signs include camptodactyly,

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Arthrogryposis, distal, type 3 (DA3)

Summary DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate. The syndrome is caused by mutationsin the PIEZO2 gene, which also causes DA5 (oculomelic amyoplasia) and Marden-Walker syndrome (MWKS). DA5 and MWKS are very similar to DA3 and are distinguished by ocular abnormalities and mental retardation, respectively (it has also been suggested that the three disorders represent variable

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Arthrogryposis, distal, type 2B (DA2B)

Summary DA2B is thought to be the most common of the distal arthrogryposis disorders. Distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth. If distal arthrogryposis type 1 (DA1) is not associated with other abnormalities, other forms of DA such as DA type2 have additional phenotypic features. DA2A is called

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Arthrogryposis, distal, type 2A (DA2A)

Summary Arthrogryposis, distal, type 2A (DA2A) is also known as Freeman-Sheldon syndrome (FSS) or whistling face syndrome and is caused by heterozygous mutation in the MYH3 gene. Mutations in this gene can also cause distal arthrogryposis type 2B (also known as Sheldon-Hall syndrome, a genetically heterogeneous subtype of distal arthrogryposis caused also by mutations in the TPM2, TNNT3 or TNNI2 gene), distal arthrogryposis 8 (DA8) and

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Arthrogryposis multiplex congenita, distal, type 1B (DA1B)

 Clinical summary Distal arthrogryposis type 1 (DA1) is characterized by multiple contractures of hands and feets (camptodactyly and clubfoot), no visceral organ involvement and normal intelligence. Large multigenerational families have been reported. DA1 type B (DA1B) is caused by mutation in the in the MYBPC1 gene (heterozygous mutations in this gene also cause DA type 2). The other form of DA1 (DA1A) is caused by mutation in

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Arthrogryposis multiplex congenita, distal, type 1A (DA1A)

Clinical summary Arthrogryposis multiplex congenita, distal, type 1 (DA1) is the prototypic form of distal arthrogryposis and as such is largely characterized by camptodactyly (permanently bent fingers and toes) and clubfoot (inward- and upward-turning foot). Recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction, although distal arthrogryposis was originally defined as being without overt neurologic or muscle disease.  Hypoplasia and/or absence of

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First clinical trial using CRISPR approved by National Institutes of Health advisory panel

Pushing cells against cancer A proposal for the first clinical trial involving CRISPR-Cas9 gene editing has been approved by the National Institutes of Health Recombinant DNA Advisory Committee. The Phase I trial, which will require approval from the Food and Drug Administration, is designed to test the safety of using CRISPR gene editing to modify a persons own immune cells to target certain cancers. Helping

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Allan-Herndon-Dudley syndrome

Recommended panel testing at Breda Genetics for this condition: Allan-Herndon-Dudley syndrome and its differential diagnosis (ABCD1, ASPA, ARSA, GALC, GJC2, MECP2, PLP1, SLC16A2, SMS, THRA) Summary Allan-Herndon-Dudley syndrome (AHDS), also known as MCT8-specific thyroid hormone cell-membrane transporter deficiency, is a rare disorder of brain development with neuromuscular involvement accompanied by specific changes in circulating thyroid hormone levels (high T3, low to normal T4). Clinical features

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Lysosomal acid lipase deficiency (Wolman disease and CESD)

Recommended panel testing at Breda Genetics for this condition: Lysosomal acid lipase deficiency (Wolman/CESD) and its differential diagnosis (LIPA, SMPD1, GBA, LDLR, APOB, PCSK9, LDLRAP1). Summary Lysosomal acid lipase deficiency is caused by homozygous or compound heterozygous mutation in the LIPA gene. Lysosomal acid lipase deficiency is predominantly a pediatric disease, although milder forms of the disease with possibility of a normal life-span are also

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RNA extraction tips

A vulnerable molecule RNA extraction from biological samples is complicated by the vulnerability of the RNA molecule itself and by the ubiquitous presence of ribonuclease enzymes in cells, tissues, and environment which can rapidly degrade RNA (for instance, RNase 7, a member of the RNase A superfamily is secreted by human skin and serves as a potent antipathogen defence). With respect to DNA, the RNA

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GATK

GATK: the Genome Analysis Toolkit The Genome Analysis Toolkit or more simply, GATK, is a software which is widely used to analyze high throughput sequencing data. GATK has been developed by the Data Science and Data Engineering group working at the Broad Institute. This specialized toolkit provides users with a broad selection tools and to focus on variant discovery, genotyping and data quality assurance. The software architecture allows it to handle projects of

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1q43q44 and 1q44 microdeletion syndromes

Summary The 1q43q44 and 1q44 microdeletion syndromes have shown to be a somewhat recognizable phenotype with various degrees of developmental delay, short stature, characteristic facial features, microcephaly, and various midline defects, of which abnormalities (agenesis/hypogenesis) of the corpus callosum is the most typical. However, the clinical phenotype of these microdeletions is quite variable. To explain such variability, incomplete penetrance, position effects, and multigenic factors have been proposed. Deletion breakpoints The size of

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Incomplete penetrance

Typical of autosomal dominant transmission What’s incomplete penetrance? When is it more common? Sometimes a patient harboring a disease-causing genetic mutation remains totally asymptomatic for their whole life. This is due to a genetic phenomenon known as incomplete penetrance. Incomplete penetrance occurs mainly in autosomal dominantly inherited disorders. The definition of penetrance is consistent with the percentage of subjects harboring a disease-causing mutation and showing clinical symptoms. Most genetic disorders show a

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Hypophosphatemic rickets

Recommended panel testing at Breda Genetics for this condition: Hypophosphatemic rickets (PHEX, CLCN5, FGF23, DMP1, ENPP1, SLC34A3) Clinical and genetic variability Hypophosphatemic rickets is a clinically and genetically heterogenous disorder. Autosomal dominant, receissive and X-linked forms are known. X-linked forms There are two forms of X-linked hypophosphatemic rickets: X-linked dominant (PHEX gene mutations) and X-linked recessive (CLCN5 gene mutations). Autosomal forms There are also autosomal

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The Star Allele Nomenclature

A way to identify pharmacogenomic markers Genetic variants identifiable as pharmacogenomic markers are described by utilizing a special nomenclature, which is not elsewhere used in genetics. It is the so-called star allele nomenclature. In this nomenclature, alleles aren’t identified by their cDNA or genomic position (as it usually happens with all other genetic variants – see HGVS nomenclature), but through the means of numbers and letters, separated from

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Hyperammonemia disorders

Panel testing recommended at Breda Genetics for this condition: Urea cycle and hyperammonemia disorders (ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB, CPS1, CPT1A, CPT2, DBT, DLD, ETFA, ETFB, ETFDH, GLUD1, HADHA, HADHB, HCFC1, HLCS, HMGCL, HMGCS2, IVD, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC (C2ORF25) , MUT, NAGS, OTC, PC, PCCA, PCCB, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC7A7, SUCLA2, SUCLG1, TMEM70) Summary Hyperammonemia is a metabolic

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Lissencephaly

Recommended Breda Genetics panel for this condition: Lissencephaly (ARX, CDK5, CEP85L, DCX,  KATNB1, LAMB1, MACF1, MDLS, NDE1, PAFAH1B1, POMT1, POMT2, RELN, TMTC3, TUBA1A). possibly plus Array-CGH Summary Lissencephaly, which means ‘smooth brain’, is a rare disorder that affects the formation of the brain between the 12th and the 24th week of gestation. It is a congenital cephalic disorder that stems from damaged or abnormal development

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