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Christopher L. Moertel - One of the best experts on this subject based on the ideXlab platform.
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Report of a patient with a constitutional Missense Mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis
American Journal of Medical Genetics Part A, 2015Co-Authors: Nathan Gossai, Jaclyn A Biegel, Ludwine Messiaen, Susan A. Berry, Christopher L. MoertelAbstract:We report a patient with a constitutional Missense Mutation in SMARCB1, Coffin-Siris Syndrome (CSS), and schwannomatosis. CSS is a rare congenital syndrome with characteristic clinical findings. This thirty-three-year-old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and general hirsutism. At age 26, he was found to have schwannomatosis after presenting with acute spinal cord compression. Blood and tissue analysis of multiple subsequent schwannoma resections revealed a germline Missense Mutation of SMARCB1, acquired loss of 22q including SMARCB1 and NF2 and Mutation of the remaining NF2 wild-type allele-thus completing the four-hit, three-event mechanism associated with schwannomatosis. Variations in five genes have been associated with the Coffin-Siris phenotype: ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1. Of these genes, SMARCB1 has a well-established association with schwannomatosis and malignancy. This is the first report of a patient with a constitutional Missense Mutation of SMARCB1 resulting in CSS and subsequent development of schwannomatosis. This finding demonstrates that a SMARCB1 Mutation may be the initial "hit" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) Mutations may be at increased risk for tumors.
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Report of a patient with a constitutional Missense Mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
American journal of medical genetics. Part A, 2015Co-Authors: Nathan Gossai, Jaclyn A Biegel, Ludwine Messiaen, Susan A. Berry, Christopher L. MoertelAbstract:We report a patient with a constitutional Missense Mutation in SMARCB1, Coffin-Siris Syndrome (CSS), and schwannomatosis. CSS is a rare congenital syndrome with characteristic clinical findings. This thirty-three-year-old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and general hirsutism. At age 26, he was found to have schwannomatosis after presenting with acute spinal cord compression. Blood and tissue analysis of multiple subsequent schwannoma resections revealed a germline Missense Mutation of SMARCB1, acquired loss of 22q including SMARCB1 and NF2 and Mutation of the remaining NF2 wild-type allele-thus completing the four-hit, three-event mechanism associated with schwannomatosis. Variations in five genes have been associated with the Coffin-Siris phenotype: ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1. Of these genes, SMARCB1 has a well-established association with schwannomatosis and malignancy. This is the first report of a patient with a constitutional Missense Mutation of SMARCB1 resulting in CSS and subsequent development of schwannomatosis. This finding demonstrates that a SMARCB1 Mutation may be the initial "hit" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) Mutations may be at increased risk for tumors.
Gabriella Lindgren - One of the best experts on this subject based on the ideXlab platform.
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A Missense Mutation in PMEL17 is associated with the Silver coat color in the horse
BMC Genetics, 2006Co-Authors: Emma Brunberg, Leif Andersson, Gus Cothran, Kaj Sandberg, Sofia Mikko, Gabriella LindgrenAbstract:Background The Silver coat color, also called Silver dapple, in the horse is characterized by dilution of the black pigment in the hair. This phenotype shows an autosomal dominant inheritance. The effect of the Mutation is most visible in the long hairs of the mane and tail, which are diluted to a mixture of white and gray hairs. Herein we describe the identification of the responsible gene and a Missense Mutation associated with the Silver phenotype. Results Segregation data on the Silver locus (Z) were obtained within one half-sib family that consisted of a heterozygous Silver colored stallion with 34 offspring and their 29 non-Silver dams. We typed 41 genetic markers well spread over the horse genome, including one single microsatellite marker (TKY284) close to the candidate gene PMEL17 on horse chromosome 6 (ECA6q23). Significant linkage was found between the Silver phenotype and TKY284 (θ = 0, z = 9.0). DNA sequencing of PMEL17 in Silver and non-Silver horses revealed a Missense Mutation in exon 11 changing the second amino acid in the cytoplasmic region from arginine to cysteine (Arg618Cys). This Mutation showed complete association with the Silver phenotype across multiple horse breeds, and was not found among non-Silver horses with one clear exception; a chestnut colored individual that had several Silver offspring when mated to different non-Silver stallions also carried the exon 11 Mutation. In total, 64 Silver horses from six breeds and 85 non-Silver horses from 14 breeds were tested for the exon 11 Mutation. One additional Mutation located in intron 9, only 759 bases from the Missense Mutation, also showed complete association with the Silver phenotype. However, as one could expect to find several non-causative Mutations completely associated with the Silver Mutation, we argue that the Missense Mutation is more likely to be causative. Conclusion The present study shows that PMEL17 causes the Silver coat color in the horse and enable genetic testing for this trait.
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a Missense Mutation in pmel17 is associated with the silver coat color in the horse
BMC Genetics, 2006Co-Authors: Emma Brunberg, Leif Andersson, Gus Cothran, Kaj Sandberg, Sofia Mikko, Gabriella LindgrenAbstract:Background The Silver coat color, also called Silver dapple, in the horse is characterized by dilution of the black pigment in the hair. This phenotype shows an autosomal dominant inheritance. The effect of the Mutation is most visible in the long hairs of the mane and tail, which are diluted to a mixture of white and gray hairs. Herein we describe the identification of the responsible gene and a Missense Mutation associated with the Silver phenotype.
Johanna Tommiska - One of the best experts on this subject based on the ideXlab platform.
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a Missense Mutation in mkrn3 in a danish girl with central precocious puberty and her brother with early puberty
Pediatric Research, 2015Co-Authors: Johanna Kansakoski, Taneli Raivio, Anders Juul, Johanna TommiskaAbstract:A Missense Mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty
Moshe Phillip - One of the best experts on this subject based on the ideXlab platform.
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a novel mkrn3 Missense Mutation causing familial precocious puberty
Human Reproduction, 2014Co-Authors: L De Vries, Galia Gatyablonski, N Dror, A Singer, Moshe PhillipAbstract:Central precocious puberty may be familial in about a quarter of the idiopathic cases. However, little is known about the genetic causes responsible for the disorder. In this report we describe a family with central precocious puberty associated with a Mutation in the makorin RING-finger protein 3 (MKRN3) gene. A novel Missense Mutation (p.H420Q) in the imprinted MKRN3 gene was identified in the four affected siblings, in their unaffected father and in his affected mother. An in silico mutant MKRN3 model predicts that the Mutation p.H420Q leads to reduced zinc binding and, subsequently, impaired RNA binding. These findings support the fundamental role of the MKRN3 protein in determining pubertal timing.
Nathan Gossai - One of the best experts on this subject based on the ideXlab platform.
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Report of a patient with a constitutional Missense Mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis
American Journal of Medical Genetics Part A, 2015Co-Authors: Nathan Gossai, Jaclyn A Biegel, Ludwine Messiaen, Susan A. Berry, Christopher L. MoertelAbstract:We report a patient with a constitutional Missense Mutation in SMARCB1, Coffin-Siris Syndrome (CSS), and schwannomatosis. CSS is a rare congenital syndrome with characteristic clinical findings. This thirty-three-year-old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and general hirsutism. At age 26, he was found to have schwannomatosis after presenting with acute spinal cord compression. Blood and tissue analysis of multiple subsequent schwannoma resections revealed a germline Missense Mutation of SMARCB1, acquired loss of 22q including SMARCB1 and NF2 and Mutation of the remaining NF2 wild-type allele-thus completing the four-hit, three-event mechanism associated with schwannomatosis. Variations in five genes have been associated with the Coffin-Siris phenotype: ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1. Of these genes, SMARCB1 has a well-established association with schwannomatosis and malignancy. This is the first report of a patient with a constitutional Missense Mutation of SMARCB1 resulting in CSS and subsequent development of schwannomatosis. This finding demonstrates that a SMARCB1 Mutation may be the initial "hit" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) Mutations may be at increased risk for tumors.
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Report of a patient with a constitutional Missense Mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
American journal of medical genetics. Part A, 2015Co-Authors: Nathan Gossai, Jaclyn A Biegel, Ludwine Messiaen, Susan A. Berry, Christopher L. MoertelAbstract:We report a patient with a constitutional Missense Mutation in SMARCB1, Coffin-Siris Syndrome (CSS), and schwannomatosis. CSS is a rare congenital syndrome with characteristic clinical findings. This thirty-three-year-old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and general hirsutism. At age 26, he was found to have schwannomatosis after presenting with acute spinal cord compression. Blood and tissue analysis of multiple subsequent schwannoma resections revealed a germline Missense Mutation of SMARCB1, acquired loss of 22q including SMARCB1 and NF2 and Mutation of the remaining NF2 wild-type allele-thus completing the four-hit, three-event mechanism associated with schwannomatosis. Variations in five genes have been associated with the Coffin-Siris phenotype: ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1. Of these genes, SMARCB1 has a well-established association with schwannomatosis and malignancy. This is the first report of a patient with a constitutional Missense Mutation of SMARCB1 resulting in CSS and subsequent development of schwannomatosis. This finding demonstrates that a SMARCB1 Mutation may be the initial "hit" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) Mutations may be at increased risk for tumors.