ID

45594

Description

Principal Investigator: Ethylin Wang Jabs, Icahn School of Medicine at Mount Sinai, NY, USA MeSH: Mobius Syndrome,Facial Paralysis,Congenital facial diplegia,Abducens Palsy,Cranial Nerve Diseases,Goldenhar Syndrome,Poland Syndrome,Limb deformities, Congenital,Craniofacial Abnormalities,Scoliosis,Cleft Palate https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001383 It is estimated that about 1 in every 33 infants in the United States is born with a birth defect. Among these, the subset of birth defect syndromes associated with facial weakness and lack of facial expression can have profound implications for social interactions and psychosocial development. Moebius syndrome is defined by congenital and non-progressive facial weakness and limited eye abduction, and most cases are believed to result from dysfunction of cranial nuclei/nerves VI and VII. Although rare, this syndrome causes significant impairment because of facial weakness and associated intellectual disabilities, autism, hearing loss, difficulty swallowing and breathing, peripheral neuropathy, muscle hypotonia, heart defects, chest wall abnormalities, and limb malformations. The phenotypic spectrum and the associated genetic and environmental factors underlying Moebius syndrome are poorly understood. The goal of this research is to identify causative gene mutations for Moebius syndrome and related conditions, such as Moebius-Poland or -Robin sequence, hereditary congenital facial paresis (HCFP), and oculoauriculovertebral dysplasia (Goldenhar syndrome). This proposal builds on an ongoing collaboration among researchers at Mount Sinai Medical Center, Boston Children's Hospital, NHGRI intramural program, and the Moebius Syndrome Foundation, but aims to greatly extend that work by collaboration with investigators in the NIH Clinical Center (CC). Our groups have already defined a new autosomal dominant syndrome with Moebius syndrome, Kallmann syndrome, cyclic vomiting resulting from a TUBB3 E410K substitution. We have also identified a new autosomal recessive Moebius-related syndrome with bilateral facial palsy, hearing loss, and strabismus resulting from a HOXB1 R207C substitution. Through collaborative efforts of these extramural teams with intramural investigators, whole exome sequencing (WES) has been conducted for four families with Moebius-like features, and data analyses are ongoing. The overall goal of this new grant application will be to conduct extensive phenotype analysis on approximately 24 families per year with Moebius and other undefined syndromes with facial weakness. Studies to be conducted at the CC include neurology, psychiatry, neurocognitive, rehabilitation medicine (muscle strength, speech/language pathology), ophthalmology, audiology, and genetics evaluations; autism screening; electromyography, nerve conduction, and blink reflex studies; videoscopy of quantitative eye movement recordings; 3D-CT craniofacial imaging; MRI of the brain, orbit, internal auditory canals, posterior fossa including brain diffusion tensor imaging for tractography; and genetic counseling. Jointly with the extramural teams, WES analysis and variant confirmation will be performed. A more comprehensive definition of the phenotypic and genotypic spectrum of these birth defects will have a significant impact on our understanding of the molecular pathways underlying dysmorphologies, cranial nerve development, and more common childhood disorders such as autism. Thus, this project will lead to strategies for prevention and treatment of birth defects.

Lien

dbGaP study = phs001383

Mots-clés

Versions (1)
  1. 07/02/2023 07/02/2023 - Simon Heim
Détendeur de droits

Ethylin Wang Jabs, Icahn School of Medicine at Mount Sinai, NY, USA

Téléchargé le

7 février 2023

DOI

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Licence

Creative Commons BY 4.0
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dbGaP phs001383 Birth Defects: Moebius Syndrome and Related Congenital Facial Weakness Disorders

Anglais

Eligibility Criteria

6 Formulaires  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
Inclusion Criteria:<br>
Description

Inclusion Criteria:<br>

Type de données

boolean

Alias
UMLS CUI [1,1]
C1512693
Subject is 2-80 years, any gender, race or ethnic group, inclusive.
Description

Subject is 2-80 years, any gender, race or ethnic group, inclusive.

Type de données

boolean

Alias
UMLS CUI [1,1]
C0001779
UMLS CUI [1,2]
C0079399
UMLS CUI [1,3]
C0034510
UMLS CUI [1,4]
C0015031
Subject has a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies, based on MPIs review of prior medical records and interview with patient and/or patient physicians.
Description

Subject has a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies, based on MPIs review of prior medical records and interview with patient and/or patient physicians.

Type de données

boolean

Alias
UMLS CUI [1,1]
C0393791
UMLS CUI [1,2]
C0000768
UMLS CUI [1,3]
C0205409
UMLS CUI [1,4]
C0205195
UMLS CUI [1,5]
C0730229
UMLS CUI [1,6]
C0683518
UMLS CUI [1,7]
C0021822
UMLS CUI [1,8]
C0031831
Subject is a family member of a patient with a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies.
Description

Subject is a family member of a patient with a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies.

Type de données

boolean

Alias
UMLS CUI [1,1]
C0086282
UMLS CUI [1,2]
C0011900
UMLS CUI [1,3]
C0393791
UMLS CUI [1,4]
C0205409
UMLS CUI [1,5]
C0205195
UMLS CUI [1,6]
C0000768
Subject has the ability to travel to the NIH Clinical Center for admissions.
Description

Subject has the ability to travel to the NIH Clinical Center for admissions.

Type de données

boolean

Alias
UMLS CUI [1,1]
C0040802
UMLS CUI [1,2]
C0085732
UMLS CUI [1,3]
C2347782
UMLS CUI [1,4]
C0184666
Subject or subject's legal guardian is able to provide written informed consent.
Description

Subject or subject's legal guardian is able to provide written informed consent.

Type de données

boolean

Alias
UMLS CUI [1,1]
C3539129
UMLS CUI [1,2]
C0085732
UMLS CUI [1,3]
C0811746
UMLS CUI [1,4]
C0021430
Exclusion criteria:<br>
Description

Exclusion criteria:<br>

Type de données

boolean

Alias
UMLS CUI [1,1]
C0680251
Subject has severe respiratory difficulties (i.e., requiring a tracheostomy or other assistive device to maintain respiration) or other disease manifestation that would interfere with the ability to comply with the requirements of this protocol and/or pose a severe anesthesia risk.
Description

Subject has severe respiratory difficulties (i.e., requiring a tracheostomy or other assistive device to maintain respiration) or other disease manifestation that would interfere with the ability to comply with the requirements of this protocol and/or pose a severe anesthesia risk.

Type de données

boolean

Alias
UMLS CUI [1,1]
C4014818
UMLS CUI [1,2]
C4228904
UMLS CUI [1,3]
C0036605
UMLS CUI [1,4]
C1280464
UMLS CUI [1,5]
C0012634
UMLS CUI [1,6]
C0521102
UMLS CUI [1,7]
C0582783
UMLS CUI [1,8]
C4544425
UMLS CUI [1,9]
C0205082
Subject has a psychiatric illness or neurological disease that would interfere with the ability to comply with the requirements of this protocol. This includes, but is not limited to, uncontrolled/untreated psychotic depression, bipolar disorder, schizophrenia, substance abuse or dependence, antisocial personality disorder, or panic disorder.
Description

Subject has a psychiatric illness or neurological disease that would interfere with the ability to comply with the requirements of this protocol. This includes, but is not limited to, uncontrolled/untreated psychotic depression, bipolar disorder, schizophrenia, substance abuse or dependence, antisocial personality disorder, or panic disorder.

Type de données

boolean

Alias
UMLS CUI [1,1]
C0004936
UMLS CUI [1,2]
C0027765
UMLS CUI [1,3]
C0521102
UMLS CUI [1,4]
C0582783
UMLS CUI [1,5]
C0743072
UMLS CUI [1,6]
C0205318
UMLS CUI [1,7]
C0332155
UMLS CUI [1,8]
C0005586
UMLS CUI [1,9]
C0038586
UMLS CUI [1,10]
C0030319
UMLS CUI [1,11]
C0003431
UMLS CUI [1,12]
C0036341
Subject shows evidence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease, or has a condition that requires immediate surgical intervention.
Description

Subject shows evidence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease, or has a condition that requires immediate surgical intervention.

Type de données

boolean

Alias
UMLS CUI [1,1]
C0332120
UMLS CUI [1,2]
C0007222
UMLS CUI [1,3]
C2985739
UMLS CUI [1,4]
C0024115
UMLS CUI [1,5]
C0023895
UMLS CUI [1,6]
C0022658
UMLS CUI [1,7]
C0018939
UMLS CUI [1,8]
C0017178
UMLS CUI [1,9]
C0025517
UMLS CUI [1,10]
C3846732
UMLS CUI [1,11]
C0543467
Subject is pregnant during the study.
Description

Subject is pregnant during the study.

Type de données

boolean

Alias
UMLS CUI [1,1]
C0032961
Subject or subject's legal guardian is unable or unwilling to provide consent or assent.
Description

Subject or subject's legal guardian is unable or unwilling to provide consent or assent.

Type de données

boolean

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C1299582
UMLS CUI [1,3]
C0558080
UMLS CUI [1,4]
C0023226
The principal investigator may decline to enroll a patient for other reasons.
Description

The principal investigator may decline to enroll a patient for other reasons.

Type de données

boolean

Alias
UMLS CUI [1,1]
C1521895
UMLS CUI [1,2]
C1548437
UMLS CUI [1,3]
C1516879
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Similar models

Eligibility Criteria

6 Formulaires
Name
Type
Description | Question | Decode (Coded Value)
Type de données
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Inclusion Criteria:<br>
Item
Inclusion Criteria:<br>
boolean
C1512693 (UMLS CUI [1,1])
Subject is 2-80 years, any gender, race or ethnic group, inclusive.
Item
Subject is 2-80 years, any gender, race or ethnic group, inclusive.
boolean
C0001779 (UMLS CUI [1,1])
C0079399 (UMLS CUI [1,2])
C0034510 (UMLS CUI [1,3])
C0015031 (UMLS CUI [1,4])
Subject has a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies, based on MPIs review of prior medical records and interview with patient and/or patient physicians.
Item
Subject has a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies, based on MPIs review of prior medical records and interview with patient and/or patient physicians.
boolean
C0393791 (UMLS CUI [1,1])
C0000768 (UMLS CUI [1,2])
C0205409 (UMLS CUI [1,3])
C0205195 (UMLS CUI [1,4])
C0730229 (UMLS CUI [1,5])
C0683518 (UMLS CUI [1,6])
C0021822 (UMLS CUI [1,7])
C0031831 (UMLS CUI [1,8])
Subject is a family member of a patient with a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies.
Item
Subject is a family member of a patient with a diagnosis of congenital facial palsy, isolated or combined with other congenital anomalies.
boolean
C0086282 (UMLS CUI [1,1])
C0011900 (UMLS CUI [1,2])
C0393791 (UMLS CUI [1,3])
C0205409 (UMLS CUI [1,4])
C0205195 (UMLS CUI [1,5])
C0000768 (UMLS CUI [1,6])
Subject has the ability to travel to the NIH Clinical Center for admissions.
Item
Subject has the ability to travel to the NIH Clinical Center for admissions.
boolean
C0040802 (UMLS CUI [1,1])
C0085732 (UMLS CUI [1,2])
C2347782 (UMLS CUI [1,3])
C0184666 (UMLS CUI [1,4])
Subject or subject's legal guardian is able to provide written informed consent.
Item
Subject or subject's legal guardian is able to provide written informed consent.
boolean
C3539129 (UMLS CUI [1,1])
C0085732 (UMLS CUI [1,2])
C0811746 (UMLS CUI [1,3])
C0021430 (UMLS CUI [1,4])
Exclusion criteria:<br>
Item
Exclusion criteria:<br>
boolean
C0680251 (UMLS CUI [1,1])
Subject has severe respiratory difficulties (i.e., requiring a tracheostomy or other assistive device to maintain respiration) or other disease manifestation that would interfere with the ability to comply with the requirements of this protocol and/or pose a severe anesthesia risk.
Item
Subject has severe respiratory difficulties (i.e., requiring a tracheostomy or other assistive device to maintain respiration) or other disease manifestation that would interfere with the ability to comply with the requirements of this protocol and/or pose a severe anesthesia risk.
boolean
C4014818 (UMLS CUI [1,1])
C4228904 (UMLS CUI [1,2])
C0036605 (UMLS CUI [1,3])
C1280464 (UMLS CUI [1,4])
C0012634 (UMLS CUI [1,5])
C0521102 (UMLS CUI [1,6])
C0582783 (UMLS CUI [1,7])
C4544425 (UMLS CUI [1,8])
C0205082 (UMLS CUI [1,9])
Subject has a psychiatric illness or neurological disease that would interfere with the ability to comply with the requirements of this protocol. This includes, but is not limited to, uncontrolled/untreated psychotic depression, bipolar disorder, schizophrenia, substance abuse or dependence, antisocial personality disorder, or panic disorder.
Item
Subject has a psychiatric illness or neurological disease that would interfere with the ability to comply with the requirements of this protocol. This includes, but is not limited to, uncontrolled/untreated psychotic depression, bipolar disorder, schizophrenia, substance abuse or dependence, antisocial personality disorder, or panic disorder.
boolean
C0004936 (UMLS CUI [1,1])
C0027765 (UMLS CUI [1,2])
C0521102 (UMLS CUI [1,3])
C0582783 (UMLS CUI [1,4])
C0743072 (UMLS CUI [1,5])
C0205318 (UMLS CUI [1,6])
C0332155 (UMLS CUI [1,7])
C0005586 (UMLS CUI [1,8])
C0038586 (UMLS CUI [1,9])
C0030319 (UMLS CUI [1,10])
C0003431 (UMLS CUI [1,11])
C0036341 (UMLS CUI [1,12])
Subject shows evidence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease, or has a condition that requires immediate surgical intervention.
Item
Subject shows evidence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease, or has a condition that requires immediate surgical intervention.
boolean
C0332120 (UMLS CUI [1,1])
C0007222 (UMLS CUI [1,2])
C2985739 (UMLS CUI [1,3])
C0024115 (UMLS CUI [1,4])
C0023895 (UMLS CUI [1,5])
C0022658 (UMLS CUI [1,6])
C0018939 (UMLS CUI [1,7])
C0017178 (UMLS CUI [1,8])
C0025517 (UMLS CUI [1,9])
C3846732 (UMLS CUI [1,10])
C0543467 (UMLS CUI [1,11])
Subject is pregnant during the study.
Item
Subject is pregnant during the study.
boolean
C0032961 (UMLS CUI [1,1])
Subject or subject's legal guardian is unable or unwilling to provide consent or assent.
Item
Subject or subject's legal guardian is unable or unwilling to provide consent or assent.
boolean
C0021430 (UMLS CUI [1,1])
C1299582 (UMLS CUI [1,2])
C0558080 (UMLS CUI [1,3])
C0023226 (UMLS CUI [1,4])
The principal investigator may decline to enroll a patient for other reasons.
Item
The principal investigator may decline to enroll a patient for other reasons.
boolean
C1521895 (UMLS CUI [1,1])
C1548437 (UMLS CUI [1,2])
C1516879 (UMLS CUI [1,3])
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