The Experts below are selected from a list of 261 Experts worldwide ranked by ideXlab platform
Mustafa Tekin - One of the best experts on this subject based on the ideXlab platform.
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Autosomal Dominant Inheritance in a recently described zmiz1 related neurodevelopmental disorder case report of siblings and an affected parent
American Journal of Medical Genetics Part A, 2020Co-Authors: Kumarie Latchman, Madison Calder, Dayna Morel, Lindsay Rhodes, Jane Juusola, Mustafa TekinAbstract:: ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating Autosomal Dominant Inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.
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Autosomal Dominant Inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent
American journal of medical genetics. Part A, 2019Co-Authors: Kumarie Latchman, Madison Calder, Dayna Morel, Lindsay Rhodes, Jane Juusola, Mustafa TekinAbstract:ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating Autosomal Dominant Inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.
Ingrid Winship - One of the best experts on this subject based on the ideXlab platform.
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Sotos syndrome ― Autosomal Dominant Inheritance substantiated
Clinical genetics, 2008Co-Authors: Ingrid WinshipAbstract:Sotos syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth. A kindred has been investigated in which the father and 4 affected offspring all have the Sotos syndrome. Autosomal Dominant Inheritance has been postulated in the past, and the family conform to this genetic pattern.
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sotos syndrome Autosomal Dominant Inheritance substantiated
Clinical Genetics, 2008Co-Authors: Ingrid WinshipAbstract:Sotos syndrome, or Cerebral Gigantism is recognised as the syndromic association of mental retardation, macrocephaly and prenatal onset of accelerated growth. A kindred has been investigated in which the father and 4 affected offspring all have the Sotos syndrome. Autosomal Dominant Inheritance has been postulated in the past, and the family conform to this genetic pattern.
Kumarie Latchman - One of the best experts on this subject based on the ideXlab platform.
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Autosomal Dominant Inheritance in a recently described zmiz1 related neurodevelopmental disorder case report of siblings and an affected parent
American Journal of Medical Genetics Part A, 2020Co-Authors: Kumarie Latchman, Madison Calder, Dayna Morel, Lindsay Rhodes, Jane Juusola, Mustafa TekinAbstract:: ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating Autosomal Dominant Inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.
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Autosomal Dominant Inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent
American journal of medical genetics. Part A, 2019Co-Authors: Kumarie Latchman, Madison Calder, Dayna Morel, Lindsay Rhodes, Jane Juusola, Mustafa TekinAbstract:ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating Autosomal Dominant Inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.
Jane Juusola - One of the best experts on this subject based on the ideXlab platform.
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Autosomal Dominant Inheritance in a recently described zmiz1 related neurodevelopmental disorder case report of siblings and an affected parent
American Journal of Medical Genetics Part A, 2020Co-Authors: Kumarie Latchman, Madison Calder, Dayna Morel, Lindsay Rhodes, Jane Juusola, Mustafa TekinAbstract:: ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating Autosomal Dominant Inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.
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Autosomal Dominant Inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent
American journal of medical genetics. Part A, 2019Co-Authors: Kumarie Latchman, Madison Calder, Dayna Morel, Lindsay Rhodes, Jane Juusola, Mustafa TekinAbstract:ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating Autosomal Dominant Inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.
Madison Calder - One of the best experts on this subject based on the ideXlab platform.
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Autosomal Dominant Inheritance in a recently described zmiz1 related neurodevelopmental disorder case report of siblings and an affected parent
American Journal of Medical Genetics Part A, 2020Co-Authors: Kumarie Latchman, Madison Calder, Dayna Morel, Lindsay Rhodes, Jane Juusola, Mustafa TekinAbstract:: ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating Autosomal Dominant Inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.
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Autosomal Dominant Inheritance in a recently described ZMIZ1‐related neurodevelopmental disorder: Case report of siblings and an affected parent
American journal of medical genetics. Part A, 2019Co-Authors: Kumarie Latchman, Madison Calder, Dayna Morel, Lindsay Rhodes, Jane Juusola, Mustafa TekinAbstract:ZMIZ1, zinc finger MIZ-domain containing 1, has recently been described in association with syndromic intellectual disability in which the primary phenotypic features include intellectual disability/developmental delay, seizures, hearing loss, behavioral issues, failure to thrive, and various congenital malformations. Most reported cases have been found to result from de novo mutations except for one set of three siblings in which parental testing could not be performed. With informed consent from the family, we report on a father and his two sons demonstrating Autosomal Dominant Inheritance of a novel pathogenic ZMIZ1 variant, c.1310delC (p.Pro437ArgfsX84), causing this recently described neurodevelopmental syndrome. While they all show syndromic findings along with short stature and intellectual disability, only one child had sensorineural hearing loss. Moreover, severity of intellectual disability and eyelid ptosis were variable among the affected members. Our report demonstrates that phenotypic features of ZMIZ1-related neurodevelopmental syndrome are variable even within the same family and that parental testing to identify a mildly affected parent is needed.